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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
Cryptorchidism, Male pseudohermaphroditism 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
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... OMIM:264300
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
46,Xy Sex Reversal 9
Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia OMIM:616067
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... ORPHA:755
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
46,Xy Sex Reversal 5
Sex reversal OMIM:613080
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Denys-Drash Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism ORPHA:220
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,... OMIM:250790
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Primary amenorrhea OMIM:202110
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Decreased circulating follicle stimulating hormon... OMIM:229070
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Currarino Syndrome
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism ORPHA:1552
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:619755
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Decreased circulating luteinizing hor... OMIM:614897
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... OMIM:613762
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries ORPHA:488191
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulat... ORPHA:453533
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Hypospadias, Female external genitalia in individual with 46,XY karyotype, ... ORPHA:90791
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypergonadotropic hypogonadism, Dysmenorrhea, Hypospadias, Decreased fe... ORPHA:90796
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Spermatogenic Failure 15
Non-obstructive azoospermia, Abnormal circulating testosterone concentration, Spermatogenesis mat... OMIM:616950
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal OMIM:613743
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Genitopalatocardiac Syndrome
Cryptorchidism, Male pseudohermaphroditism, Hypospadias, Gonadal dysgenesis, male ORPHA:2075
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Partington Syndrome
Macroorchidism ORPHA:94083
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Hypopl... OMIM:614841
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Macroorchidism, Abnormali... ORPHA:90790
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... OMIM:619834
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone concentration, Az... OMIM:108420
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619665
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79084
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Sex reversal ORPHA:139466
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypoplasia of the ovary, Elevated ci... OMIM:612885
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619203
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Chondrodysplasia-Difference Of Sex Development Syndrome
Male pseudohermaphroditism ORPHA:1422
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Nivelon-Nivelon-Mabille Syndrome
Male pseudohermaphroditism OMIM:600092
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Premature Ovarian Failure 21
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... OMIM:620311
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis ORPHA:2282
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Polyembryoma
Macroorchidism, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditism, Abnormality... ORPHA:847
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... ORPHA:280356
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Long p... ORPHA:769
Perrault Syndrome 2
Streak ovary OMIM:614926
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Spermatogenic Failure 77
Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulating testosterone co... OMIM:620103
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Polycystic ... OMIM:615363
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:79085
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism ORPHA:140
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... ORPHA:261529
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Premature Ovarian Failure 5
Streak ovary, Hypoplasia of the ovary OMIM:611548
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Delayed puberty OMIM:300510
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne... ORPHA:99429
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Fragile X Syndrome
Macroorchidism ORPHA:908
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma ORPHA:2869
Ovarian Fibrothecoma
Ovarian fibroma, Abnormal circulating hormone concentration, Abnormal endometrium morphology, Gon... ORPHA:314478
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... ORPHA:3085
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concentration, Elevated ... OMIM:615842
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Meacham Syndrome
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina OMIM:608978
Meckel Syndrome
True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male pseudohermaphro... ORPHA:564
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis OMIM:611812
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum, T... ORPHA:2745
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary OMIM:609993
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Abnormal fallopia... ORPHA:2556
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435651
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Preeclampsia
Type I diabetes mellitus, Polycystic ovaries ORPHA:275555
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia OMIM:612651
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435660
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Precocious puberty, Oligozoospermia, Infertility, Oligomenorrhea, Ambiguous ... ORPHA:786
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Ataxia-Telangiectasia
Diabetes mellitus, Polycystic ovaries, Type II diabetes mellitus, Delayed puberty, Abnormal testi... ORPHA:100
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Typ... OMIM:604367
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias OMIM:618874
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Displacement of the urethral meatus, Urogenital sinus anomaly, Femal... ORPHA:2973
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... ORPHA:201
Familial Glucocorticoid Deficiency
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Azoospermia, Leydig cell neopl... ORPHA:361
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia... OMIM:246200
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Left ventricular hypertrophy, Micropenis, Decreased testicular size, Ri... ORPHA:335
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Pagod Syndrome
Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of female internal... ORPHA:991
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Pituitary growth hormone c... ORPHA:1359
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Macroorchidism, Thyroid hypoplasia, Increased circulating prolactin con... ORPHA:90674
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatomegaly, Diabetes mellitus, Polycystic ovaries ORPHA:2348
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Campomelic Dysplasia
Sex reversal, Hypospadias OMIM:114290
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response t... ORPHA:98754
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Neoplasm of the thymus, Spl... ORPHA:744
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Macroorchidism, Precocious puberty OMIM:619950
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response t... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response t... ORPHA:177904
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79086
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response t... ORPHA:177901
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm OMIM:175200
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus OMIM:269880
Prader-Willi Syndrome
Small scrotum, Diabetes mellitus, Decreased response to growth hormone stimulation test, External... ORPHA:739
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Po... OMIM:151660
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Specc1L-Related Hypertelorism Syndrome
Cryptorchidism, Female pseudohermaphroditism, Shawl scrotum ORPHA:1519
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Labial hypertrophy, Hyperi... OMIM:608594
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec... ORPHA:572333
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Hepatomegaly ORPHA:400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Splenomegal... ORPHA:280365
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Decreased serum leptin, Splenomegaly, Labial hypertrophy, Hyperinsulinemia, Polycys... OMIM:269700
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism, Enlarged kidney OMIM:618188
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Hepatomegaly, Delayed puberty, Polycystic ovaries ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Hepatomegaly, Polycystic ovaries ORPHA:79240
C Syndrome
Cryptorchidism, Female pseudohermaphroditism ORPHA:1308
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Aspartylglucosaminuria
Macroorchidism OMIM:208400
Alström Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious... ORPHA:64
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
Hepatomegaly, Thyroiditis, Polycystic ovaries, Delayed puberty, Hypothyroidism, Enlarged kidney ORPHA:79259
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenomegaly, Parathyroid ... OMIM:188400
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cardiomegaly, Precocious puberty, Cryptorchid... 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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