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Gene: Amh MGI:88006

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
anti-Mullerian hormone
Synonyms:
Mullerian inhibiting substance,  MIS

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Amh mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Amh by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550

The table below shows human diseases predicted to be associated to Amh by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyo... OMIM:264300
46,Xy Sex Reversal 9
Sex reversal, Ambiguous genitalia, Fused labia minora, Gonadal dysgenesis OMIM:616067
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, I... ORPHA:752
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Ambiguous genitalia, Adrenal hyperplasia, Primary amenorrhea OMIM:202110
Frasier Syndrome
Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Delayed menarche, Decreased female lib... ORPHA:52901
Denys-Drash Syndrome
Male pseudohermaphroditism, Gonadal dysgenesis ORPHA:220
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia, Micropenis, Hypospadias, Scrotal ... OMIM:250790
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:614839
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Currarino Syndrome
Male pseudohermaphroditism, Hypospadias, Hypoplasia of penis, Bifid scrotum ORPHA:1552
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Frasier Syndrome
Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, Gonadal dysgenesis with fema... ORPHA:347
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... OMIM:613762
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... OMIM:620651
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Sex reversal OMIM:613080
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary a... OMIM:614840
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Adrenal hyperplasia, Male pseudoherm... OMIM:201810
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Abnormal labia majora morphology, Congenital adrenal hyperplasia, Decreased... ORPHA:90791
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Decreased fertility, C... ORPHA:90796
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... OMIM:619761
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal OMIM:613743
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Genitopalatocardiac Syndrome
Male pseudohermaphroditism, Hypospadias, Cryptorchidism, Gonadal dysgenesis, male ORPHA:2075
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... ORPHA:90790
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Partington Syndrome
Macroorchidism ORPHA:94083
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries ORPHA:79084
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Sex reversal ORPHA:139466
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:615724
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating prolactin concentration, Goiter... ORPHA:562
Chondrodysplasia-Difference Of Sex Development Syndrome
Male pseudohermaphroditism ORPHA:1422
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Nivelon-Nivelon-Mabille Syndrome
Male pseudohermaphroditism OMIM:600092
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619203
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Delayed puberty, Elevated circulating follicle st... OMIM:614324
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis, Hypospadias ORPHA:2282
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitali... ORPHA:847
Perrault Syndrome 2
Streak ovary OMIM:614926
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatomegal... ORPHA:79085
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulating gonadotropin leve... ORPHA:8
Campomelic Dysplasia
Male pseudohermaphroditism, Ambiguous genitalia ORPHA:140
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Irregular menstruation ORPHA:180229
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Ring Chromosome Y Syndrome
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater... ORPHA:261529
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:612310
Non-Functioning Pituitary Adenoma
Hypopituitarism, Decreased fertility in females, Female hypogonadism, Decreased fertility in male... ORPHA:91349
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Hypopituitari... ORPHA:226307
Premature Ovarian Failure 5
Streak ovary, Hypoplasia of the ovary OMIM:611548
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Delayed puberty, Hypergonadotropic hypogonadism OMIM:300510
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, Cr... ORPHA:95699
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Cervix cancer ORPHA:2869
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... ORPHA:3085
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Abnormal endometrium morphology, Ovarian fibroma... ORPHA:314478
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypospadias, Adrenal gland agenesis, Sex reversal OMIM:611812
Leprechaunism
Clitoral hypertrophy, Long penis, Central hypothyroidism, Overgrowth of external genitalia, Hyper... ORPHA:508
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina OMIM:608978
Opitz Gbbb Syndrome
Thyroglossal cyst, Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate ute... ORPHA:2745
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatomegal... ORPHA:435651
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Familial Adenomatous Polyposis 4
Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
Meningioma
Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Incr... ORPHA:2495
Meckel Syndrome
Cryptorchidism, True hermaphroditism, Male pseudohermaphroditism, Ambiguous genitalia, Pancreatic... ORPHA:564
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary OMIM:609993
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Male pseudohermaphroditism, Ambiguous genitalia,... ORPHA:2556
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Premature adrenarche, Clitoral hypertrophy, Long penis, Increased circulating... ORPHA:90795
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Cryptorchidism, Ambiguous genitalia, Hypospadias, Sex reversal OMIM:612651
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Female pseudohermaphroditism, Adrenal hyperplasia, Ambiguous genitalia, Oligo... ORPHA:786
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus, Polycystic ovaries, Delayed puberty,... ORPHA:100
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Fragile X Syndrome
Macroorchidism ORPHA:908
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... OMIM:604367
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries ORPHA:1580
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Female pseudohermaphroditism, Urogenital sinus anomaly, Displacement... ORPHA:2973
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the uterus, Goiter, Endom... ORPHA:201
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic ... OMIM:246200
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Micropenis, Ri... ORPHA:335
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hyperinsul... ORPHA:528
Preeclampsia
Type I diabetes mellitus, Polycystic ovaries ORPHA:275555
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias OMIM:618874
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes... OMIM:615109
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Pagod Syndrome
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Female pseudohermaph... ORPHA:991
Trisomy 20P
Macroorchidism, Hypospadias, Cryptorchidism ORPHA:261318
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Splenomegaly, Polycystic ovaries, Maternal diabetes, Hepatom... ORPHA:79083
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Precocious puberty, Small scrotum, Premature adrenarche, Decreased circulating gonadotropin conce... ORPHA:98754
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Splenomegaly, Polycystic ovaries ORPHA:2348
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypothyroidism, Hyperthyroi... OMIM:158350
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Carney Complex
Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Euthyr... ORPHA:1359
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Precocious puberty, Small scrotum, Premature adrenarche, Decreased circulating gonadotropin conce... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Precocious puberty, Small scrotum, Premature adrenarche, Decreased circulating gonadotropin conce... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Precocious puberty, Small scrotum, Premature adrenarche, Decreased circulating gonadotropin conce... ORPHA:177901
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Goiter, Pituitary hypothyroidism, Macroorchidism, ... ORPHA:90674
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Small pituitary gland, Premature adrenarche, Decreased circula... ORPHA:739
Campomelic Dysplasia
Hypospadias, Sex reversal OMIM:114290
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Azoospermia, Cryptorchidism, Testicular adrenal rest t... ORPHA:361
Proteus Syndrome
Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarge... ORPHA:744
Acquired Generalized Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Polycystic ovaries ORPHA:79086
Peutz-Jeghers Syndrome
Uterine neoplasm, Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor OMIM:175200
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Type I diabetes mellitus, Premature thelarche, Polycystic ovaries ORPHA:371428
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus OMIM:269880
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... OMIM:151660
Cystic Echinococcosis
Hepatomegaly, Abnormality of the testis size, Ovarian cyst ORPHA:400
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Splenomegaly, Polycystic ovaries, Hep... OMIM:608594
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Splenomegaly, Polycystic ovaries, Hepatomegaly, Diabetes mellitus, D... ORPHA:280365
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney ORPHA:276280
Specc1L-Related Hypertelorism Syndrome
Female pseudohermaphroditism, Cryptorchidism, Shawl scrotum ORPHA:1519
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Enlarged kidney, Ovarian cyst OMIM:618188
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Type II diabetes mellitus, Splenomega... OMIM:269700
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Ambiguou... ORPHA:2052
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Delayed puberty, Splenomegaly, Polycystic ovaries ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:79240
C Syndrome
Female pseudohermaphroditism, Cryptorchidism ORPHA:1308
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Polycystic ovaries ORPHA:137675
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst OMIM:311200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Polycystic ovaries, Hypothyroidism, Delayed puberty, Hepatomegaly, Enlarged kidney, Thyroiditis ORPHA:79259
Bardet-Biedl Syndrome
Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreased testicular size, Type... ORPHA:110
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Aspartylglucosaminuria
Macroorchidism OMIM:208400
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Splenomegaly, Ovarian cyst, Parathyroid agenesis, Hypopla... OMIM:188400
Alström Syndrome
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Hypoplasia of the Ley... ORPHA:64
Williams Syndrome
Precocious puberty, Cholelithiasis, Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries... ORPHA:904

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Amh

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Amh.

No publications found that use IMPC mice or data for Amh.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Amhtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Amhtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Amhtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Amhtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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