Amh anti-Mullerian hormone [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Amhprovided by MGI
Official Full Name: anti-Mullerian hormoneprovided by MGI
Primary source: MGI:MGI:88006
See related: Ensembl:ENSMUSG00000035262 AllianceGenome:MGI:88006
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MIS
Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Homozygous knockout male mice develop female reproductive organs and are often sterile, while homozygous knockout female mice exhibit premature depletion of primordial follicles. [provided by RefSeq, Jul 2016]
Expression: Biased expression in ovary adult (RPKM 123.7) and stomach adult (RPKM 9.9) See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 39.72 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (80641074..80643513)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (80805240..80807679)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Anti-Mullerian hormone induces autophagy to preserve the primordial follicle pool in mice.
Title: Anti-Müllerian hormone induces autophagy to preserve the primordial follicle pool in mice.
Serum Anti-Mullerian Hormone Is an Effective Indicator of Antral Follicle Counts but Not Primordial Follicle Counts.
Title: Serum Anti-Müllerian Hormone Is an Effective Indicator of Antral Follicle Counts but Not Primordial Follicle Counts.
Effects of umbilical cord mesenchymal stem cells on expression of CYR61, FSH, and AMH in mice with premature ovarian failure.
Title: Effects of umbilical cord mesenchymal stem cells on expression of CYR61, FSH, and AMH in mice with premature ovarian failure.
Blocking estrogen-induced AMH expression is crucial for normal follicle formation.
Title: Blocking estrogen-induced AMH expression is crucial for normal follicle formation.
Accelerated ovarian reserve depletion in female anti-Mullerian hormone knockout mice has no effect on lifetime fertilitydagger.
Title: Accelerated ovarian reserve depletion in female anti-Müllerian hormone knockout mice has no effect on lifetime fertility†.
Exposure to MIS during the first six days of life, by inhibiting specification of the stroma, dysregulates paracrine signals necessary for uterine development, eventually resulting in apoptosis of the Misr2+ cells, uterine hypoplasia, and complete infertility in the adult female.
Title: Single-cell sequencing of neonatal uterus reveals an Misr2+ endometrial progenitor indispensable for fertility.
These findings highlight a novel role for AMH in the development and function of GnRH neurons.
Title: Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.
AMH's inhibitory actions are regulated at least in part by H19, likely via let-7, marking this ncRNA pair as important regulators of the establishment and maintenance of the follicular pool.
Title: A novel, noncoding-RNA-mediated, post-transcriptional mechanism of anti-Mullerian hormone regulation by the H19/let-7 axis.
Moderate elevations in AMH levels can severely restrict reproductive output and the number of developing follicles in the ovary. This evidence suggests that early antral follicles are a target for AMH signaling, which may regulate early follicle survival.
Title: Anti-Müllerian hormone overexpression restricts preantral ovarian follicle survival.
These results suggest that AMH acts on the Mullerian duct in male mice by exuding into the interstitium surrounding the testis cord and infiltrating through the cranial region from the testis to the mesonephros.
Title: The mechanisms underlying the effects of AMH on Müllerian duct regression in male mice.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (10) 1 citation

General gene information

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Markers

Amh (e-PCR), detects polymorphism
- UniSTS:464653

PMC203309P1 (e-PCR)
- UniSTS:271898

PMC180915P2 (e-PCR)
- UniSTS:271668

Amh (e-PCR), detects polymorphism
- UniSTS:186192

Amh (e-PCR), detects polymorphism
- UniSTS:265566

AW047242 (e-PCR)
- UniSTS:180079

Amh (e-PCR), detects polymorphism
- UniSTS:256882

Amh (e-PCR), detects polymorphism
- UniSTS:275862

Amh (e-PCR), detects polymorphism
- UniSTS:275863

Sf3a2 (e-PCR), detects polymorphism
- UniSTS:275871

Sf3a2 (e-PCR), detects polymorphism
- UniSTS:275872

NoName (e-PCR)
- UniSTS:547550

Amh (e-PCR), detects polymorphism
- UniSTS:547550

Amh (e-PCR), detects polymorphism
- UniSTS:496634

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info
enables type II transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info
enables type II transforming growth factor beta receptor binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Leydig cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Mullerian duct regression	IBA Inferred from Biological aspect of Ancestor more info
involved_in Mullerian duct regression	ISO Inferred from Sequence Orthology more info
involved_in Mullerian duct regression	ISS Inferred from Sequence or Structural Similarity more info
involved_in anti-Mullerian hormone receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in anti-Mullerian hormone receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in gonadal mesoderm development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ovarian follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ovarian follicle development	ISO Inferred from Sequence Orthology more info
involved_in ovarian follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in preantral ovarian follicle growth	ISO Inferred from Sequence Orthology more info
involved_in sex determination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within urogenital system development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: muellerian-inhibiting factor

Names: Mullerian inhibiting substance; anti-Muellerian hormone; muellerian-inhibiting substance

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_007445.3 → NP_031471.2 muellerian-inhibiting factor precursor

See identical proteins and their annotated locations for NP_031471.2

Status: REVIEWED

Source sequence(s)

AC166937

Consensus CDS

CCDS24033.1

UniProtKB/Swiss-Prot

A7E2R1, P27106, Q5EC55

UniProtKB/TrEMBL

A0A8Q0P8A2

Related

ENSMUSP00000043153.5, ENSMUST00000036016.6

Conserved Domains (2) summary

smart00204
Location:456 → 554

TGFB; Transforming growth factor-beta (TGF-beta) family

pfam04709
Location:76 → 396

AMH_N; Anti-Mullerian hormone, N terminal region