Amh MGI Mouse Gene Detail - MGI:88006 - anti-Mullerian hormone

Symbol

Amh
Name

anti-Mullerian hormone
Synonyms

MIS, Mullerian inhibiting substance

Feature Type

protein coding gene
IDs

MGI:88006
NCBI Gene: 11705
Alliance

gene page
Transcription Start Sites

14 TSS

Sequence Map

Chr10:80641077-80643482 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 39.72 cM
Mapping Data

10 experiments

SNPs within 2kb

89 from dbSNP Build 142
Strain Annotations

18
RFLP

6

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88006	protein coding gene	Chr10:80641074-80643513 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017520	protein coding gene	Chr10:81458243-81460628 (+)
A/J	MGP_AJ_G0017498	protein coding gene	Chr10:78596894-78599294 (+)
AKR/J	MGP_AKRJ_G0017459	protein coding gene	Chr10:80750944-80753344 (+)
BALB/cJ	MGP_BALBcJ_G0017460	protein coding gene	Chr10:78810718-78813143 (+)
C3H/HeJ	MGP_C3HHeJ_G0017283	protein coding gene	Chr10:80836408-80838808 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017914	protein coding gene	Chr10:84261893-84264284 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015603	protein coding gene	Chr10:74805996-74808388 (+)
CAST/EiJ	MGP_CASTEiJ_G0016850	protein coding gene	Chr10:81063958-81066358 (+)
CBA/J	MGP_CBAJ_G0017255	protein coding gene	Chr10:87529658-87535765 (+)
DBA/2J	MGP_DBA2J_G0017361	protein coding gene	Chr10:77795567-77797952 (+)
FVB/NJ	MGP_FVBNJ_G0017355	protein coding gene	Chr10:77027123-77029523 (+)
LP/J	MGP_LPJ_G0017432	protein coding gene	Chr10:81922949-81925349 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017381	protein coding gene	Chr10:89448149-89450569 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017955	protein coding gene	Chr10:80744666-80747116 (+)
PWK/PhJ	MGP_PWKPhJ_G0016631	protein coding gene	Chr10:77684504-77686904 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016421	protein coding gene	Chr10:79690360-79694151 (+)
WSB/EiJ	MGP_WSBEiJ_G0016910	protein coding gene	Chr10:80778925-80783222 (+)

Human Ortholog

AMH, anti-Mullerian hormone

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AMH, anti-Mullerian hormone
Synonyms

MIF, MIS
Links

HGNC:464

NCBI Gene ID: 268

neXtProt AC: NX_P03971

UniProt: P03971
Chr Location

19p13.3; chr19:2249309-2252073 (+) GRCh38

MGI Vertebrate Homology

Amh stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AMH
Protein SuperFamily

Muellerian-inhibiting_factor
Gene Tree

Amh

Diseases

3 with human AMH associations

				Human Disease	Mouse Models
				disorder of sexual development IDs disorder of sexual development DOID:1923 MESH:D012734 UMLS_CUI:C0036875
				ovarian carcinoma IDs ovarian carcinoma DOID:4001 EFO:0001075 UMLS_CUI:C0677886
				persistent Mullerian duct syndrome IDs persistent Mullerian duct syndrome DOID:0050791 MESH:C536665 NCI:C120188 OMIM:261550 UMLS_CUI:C1849930

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

11 phenotypes from 7 alleles in 2 genetic backgrounds
11 phenotypes from multigenic genotypes
31 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

17
Chemically induced (other)

1
Endonuclease-mediated

2
Targeted

14
Genomic Mutations

1 involving Amh
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

24 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygous null mutant males have a complete male reproductive tract and functional sperm, but also uterus and oviducts. Most are infertile due to female organs blocking sperm transfer. Females are fertile with enlarged ovaries and atypical follicles.

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All GO Annotations

26
GO References

12

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1325
Tissues

119
cDNA Data

9
Literature Summary

248

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA AMH

Xenbase amh

ZFIN amh

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All Sequences

32
RefSeq

2
UniProt

2
CCDS

CCDS24033.1

Ensembl

ENSMUSG00000035262 (Evidence)
NCBI Gene

11705

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035262	Ensembl Gene Model \| MGI Sequence Detail	2406	C57BL/6J	± kb
transcript	ENSMUST00000036016	Ensembl \| MGI Sequence Detail	1670	Not Applicable
polypeptide	ENSMUSP00000043153	Ensembl \| MGI Sequence Detail	554	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000000073 Muellerian-inhibiting factor

(term hierarchy)
InterPro Domains

IPR006799 Anti-Mullerian hormone, N-terminal

IPR029034 Cystine-knot cytokine

IPR021203 Muellerian-inhibiting factor

IPR017948 Transforming growth factor beta, conserved site

IPR001839 Transforming growth factor-beta, C-terminal
GlyGen

P27106 4 sites, 1 O-linked glycan (1 site)

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All nucleic 45

Genomic 7

cDNA 10

Primer pair 19

Other 9

Microarray probesets 3

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MGD-MRK-1297

Summaries

All 335

Developmental Gene Expression 248

Gene Ontology 12

Phenotypes 31
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:358920 Smith ER, et al., AMH regulates a mosaic population of AMHR2-positive cells in the ovarian surface epithelium. J Biol Chem. 2024 Nov;300(11):107897

TSS for Amh:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94614	Chr10:80639115-80639126 (+)	-1,956 bp
Tssr94615	Chr10:80639435-80639451 (+)	-1,634 bp
Tssr94616	Chr10:80639479-80639494 (+)	-1,590 bp
Tssr94617	Chr10:80639497-80639516 (+)	-1,570 bp
Tssr94618	Chr10:80639871-80639897 (+)	-1,193 bp
Tssr94619	Chr10:80639902-80639924 (+)	-1,164 bp
Tssr94620	Chr10:80639934-80639952 (+)	-1,134 bp
Tssr94621	Chr10:80639958-80639984 (+)	-1,106 bp
Tssr94622	Chr10:80640045-80640061 (+)	-1,024 bp
Tssr94623	Chr10:80640554-80640574 (+)	-513 bp
Tssr94624	Chr10:80641067-80641083 (+)	-2 bp
Tssr94625	Chr10:80641962-80641975 (+)	892 bp
Tssr94626	Chr10:80642233-80642244 (+)	1,162 bp
Tssr94627	Chr10:80642664-80642674 (+)	1,592 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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