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Gene: Amhr2 MGI:105062

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 type 2 receptor

Synonyms:

MIS TypeII receptor, MISIIR

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 Amhr2 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.

Human diseases associated with Amhr2 (2 diseases)
Human diseases predicted to be associated with Amhr2 (203 diseases)

The table below shows human diseases associated to Amhr2 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		Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism	OMIM:261550

The table below shows human diseases predicted to be associated to Amhr2 by phenotypic similarity.

Disease	Matching phenotypes	Source
46,Xy Sex Reversal 8	Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism	OMIM:614279
46,Xy Sex Reversal 4	Sex reversal, Gonadal dysgenesis	OMIM:154230
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i...	ORPHA:983
46,Xy Complete Gonadal Dysgenesis	Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism	ORPHA:242
Persistent Müllerian Duct Syndrome	Cryptorchidism, Male pseudohermaphroditism	ORPHA:2856
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp...	ORPHA:752
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo...	OMIM:264300
46,Xy Sex Reversal 9	Fused labia minora, Ambiguous genitalia, Sex reversal, Gonadal dysgenesis	OMIM:616067
46,Xy Sex Reversal 2	Sex reversal	OMIM:300018
46,Xx Sex Reversal 3	Sex reversal	OMIM:300833
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a...	OMIM:619528
Partial Chromosome Y Deletion	Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi...	ORPHA:1646
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia	OMIM:619145
Testes, Rudimentary	Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism	OMIM:273150
Isochromosomy Yp	Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia	ORPHA:98797
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
Methemoglobinemia And Ambiguous Genitalia	Hypospadias, Bifid scrotum, Micropenis, Ambiguous genitalia, Male pseudohermaphroditism	OMIM:250790
46,Xy Sex Reversal 1	Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit...	OMIM:400044
46,Xy Sex Reversal 10	Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular...	OMIM:616425
Androgen Insensitivity, Partial	Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch...	OMIM:312300
Androgen Insensitivity Syndrome	Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o...	ORPHA:754
Persistent Mullerian Duct Syndrome, Types I And Ii	Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism	OMIM:261550
Isochromosomy Yq	Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia...	ORPHA:98798
Leydig Cell Hypoplasia	Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Secondary amenorrhea, Abnormal...	ORPHA:755
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hypospadias, Bifid scrotum, Absent scrotum, Micropenis, Ambiguous genitalia, Male pseudohermaphro...	OMIM:201810
Familial Male-Limited Precocious Puberty	Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty	ORPHA:3000
46,Xy Sex Reversal 5	Sex reversal	OMIM:613080
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Spermatogenic Failure 62	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Isolated Follicle Stimulating Hormone Deficiency	Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon...	ORPHA:52901
Deafness-Infertility Syndrome	Abnormal spermatogenesis, Male infertility, Reduced sperm motility	OMIM:611102
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea	OMIM:202110
Frasier Syndrome	Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis	OMIM:136680
Denys-Drash Syndrome	Male pseudohermaphroditism, Gonadal dysgenesis	ORPHA:220
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in...	OMIM:618751
Spermatogenic Failure 45	Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 49	Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 46	Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S...	OMIM:619095
Spermatogenic Failure 48	Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Precocious Puberty, Central, 2	Premature thelarche, Premature pubarche	OMIM:615346
Precocious Puberty, Male-Limited	Precocious puberty in males, Decreased testicular size	OMIM:176410
Spermatogenic Failure 11	Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 47	Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella	OMIM:619102
Mental Retardation, X-Linked 14	Macroorchidism	OMIM:300062
Spermatogenic Failure 58	Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv...	OMIM:619585
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Spermatogenic Failure 40	Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse...	OMIM:618664
Spermatogenic Failure, X-Linked, 3	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:301059
Spermatogenic Failure 7	Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 56	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:619515
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 1	Oligospermia, Male infertility, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 42	Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ...	OMIM:618745
Male Infertility Due To Acephalic Spermatozoa	Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,...	ORPHA:529970
Spermatogenic Failure 41	Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella	OMIM:618670
Spermatogenic Failure 39	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618643
Spermatogenic Failure 5	Functional abnormality of male internal genitalia, Male infertility	OMIM:243060
Currarino Syndrome	Hypospadias, Male pseudohermaphroditism, Hypoplasia of penis, Bifid scrotum	ORPHA:1552
Spermatogenic Failure 54	Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled...	OMIM:619379
Frasier Syndrome	Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat...	ORPHA:347
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Sex reversal	ORPHA:85112
46,Xy Sex Reversal 3	Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr...	OMIM:612965
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size	OMIM:229070
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicul...	OMIM:614840
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre...	OMIM:146110
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Obstructive azoospermia, Male infertility	OMIM:301060
46,Xy Sex Reversal 6	Hypospadias, Sex reversal, Gonadoblastoma, Chordee, Dysgerminoma, Clitoral hypertrophy	OMIM:613762
Ring Chromosome Y Syndrome	Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni...	ORPHA:261529
Mental Retardation, X-Linked 2	Macroorchidism	OMIM:300428
46,Xy Sex Reversal 7	Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian...	OMIM:233420
46,Xx Testicular Disorder Of Sex Development	Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,...	OMIM:228300
Spermatogenic Failure 18	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617576
Spermatogenic Failure 20	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617593
Spermatogenic Failure 19	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617592
Spermatogenic Failure 35	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618341
Spermatogenic Failure 33	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618152
Spermatogenic Failure 34	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618153
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypospadias, Decreased fertility in females, Dysmenorrhea, Elevated circulating follicle stimulat...	ORPHA:90796
Aromatase Deficiency	Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypospadias, Azoospermia, Penoscrotal hypospadias, Decreased fertility in males, Ambiguous genita...	ORPHA:90791
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type	Male pseudohermaphroditism, Cervical spina bifida	OMIM:600122
Spermatogenic Failure 25	Azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
46,Xx Sex Reversal 2	True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope...	OMIM:278850
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Denys-Drash Syndrome	Ovarian gonadoblastoma, True hermaphroditism, Ambiguous genitalia, female, Ambiguous genitalia, m...	OMIM:194080
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Spermatogenic Failure 10	Abnormal sperm morphology, Infertility	OMIM:614822
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
46,Xx Sex Reversal 1	Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon...	OMIM:400045
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 26	Infertility, Acephalic spermatozoa	OMIM:617961
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,...	ORPHA:168558
Spermatogenic Failure 16	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Genitopalatocardiac Syndrome	Hypospadias, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorchidism	ORPHA:2075
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,...	ORPHA:289548
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Sex reversal	OMIM:613743
Spermatogenic Failure 38	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618433
Spermatogenic Failure 32	Infertility, Azoospermia	OMIM:618115
Spermatogenic Failure 23	Infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 22	Infertility, Azoospermia	OMIM:617706
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size	OMIM:616030
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato...	ORPHA:399805
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Cortisone Reductase Deficiency 1	Infertility, Precocious puberty, Oligomenorrhea	OMIM:604931
Partington Syndrome	Macroorchidism	ORPHA:94083
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Adrenal hyperplasia, Macroorchidism, Endometrial carcinoma, Female external genitalia in individu...	ORPHA:90790
Mccune-Albright Syndrome	Macroorchidism, Goiter, Abnormal testis morphology, Decreased fertility, Hyperplasia of the Leydi...	ORPHA:562
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Small scrotum, Urogenital sinus anomaly, Ambiguous genitalia, male, Ambiguous geni...	ORPHA:753
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Chondrodysplasia-Disorder Of Sex Development Syndrome	Male pseudohermaphroditism	ORPHA:1422
Functioning Gonadotropic Adenoma	Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Adrenocorticotropic hormone...	ORPHA:91348
Serkal Syndrome	Hypospadias, Abnormal penis morphology, Sex reversal	ORPHA:139466
Nivelon-Nivelon-Mabille Syndrome	Male pseudohermaphroditism	OMIM:600092
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev...	ORPHA:399808
47,Xyy Syndrome	Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,...	ORPHA:8
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome	Hypospadias, Micropenis, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum	ORPHA:2282
Hypogonadism-Cataract Syndrome	Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l...	OMIM:240950
Aromatase Deficiency	Macroorchidism, postpubertal, Ambiguous genitalia, female, Female infertility, Male infertility, ...	ORPHA:91
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the male genitalia, Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditis...	ORPHA:847
Polyembryoma	Macroorchidism, Irregular menstruation, Isosexual precocious puberty	ORPHA:180229
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Non-Functioning Pituitary Adenoma	Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ...	ORPHA:91349
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size	OMIM:614897
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism	ORPHA:2229
46,Xx Ovotesticular Disorder Of Sex Development	Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali...	ORPHA:2138
Campomelic Dysplasia	Male pseudohermaphroditism, Ambiguous genitalia	ORPHA:140
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Partial Androgen Insensitivity Syndrome	Hypospadias, Aplasia of the uterus, Male sexual dysfunction, Bifid scrotum, Fused labia majora, A...	ORPHA:90797
46,Xy Partial Gonadal Dysgenesis	Hypospadias, Elevated circulating follicle stimulating hormone level, Urogenital sinus anomaly, M...	ORPHA:251510
Endocrine-Cerebroosteodysplasia	Hypospadias, Sex reversal, Micropenis, Ambiguous genitalia, Cryptorchidism, Microphallus	OMIM:612651
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f...	OMIM:618086
Meckel Syndrome	True hermaphroditism, Pancreatic cysts, Urethral atresia, Ambiguous genitalia, Cryptorchidism, Ma...	ORPHA:564
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Adrenal gland agenesis, Ovotestis, Sex reversal	OMIM:611812
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Complete Androgen Insensitivity Syndrome	Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in...	ORPHA:99429
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Fragile X Syndrome	Macroorchidism	ORPHA:908
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism	OMIM:300055
46,Xy Ovotesticular Disorder Of Sex Development	True hermaphroditism, Bifid scrotum, Gonadoblastoma, Chordee, Abnormality of the male genitalia, ...	ORPHA:325345
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries, Umbilical hernia	ORPHA:284180
Atkin-Flaitz Syndrome	Macroorchidism	OMIM:300431
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Microphthalmia With Linear Skin Defects Syndrome	Hypospadias, Abnormal penis morphology, Clitoral hypertrophy, Abnormal testis morphology, Ambiguo...	ORPHA:2556
Meacham Syndrome	Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Blind vagina	OMIM:608978
Generalized Glucocorticoid Resistance Syndrome	Oligospermia, Adrenal hyperplasia, Infertility, Oligomenorrhea, Ambiguous genitalia, Female pseud...	ORPHA:786
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypospadias, Irregular menstruation, Aplasia of the uterus, Precocious puberty in females, Bifid ...	ORPHA:90793
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Urogenital sinus anomaly, Displacement of the urethral meatus, Abnor...	ORPHA:2973
Classic Galactosemia	Decreased fertility in females, Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary a...	ORPHA:79239
Campomelic Dysplasia	Sex reversal	OMIM:114290
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism	ORPHA:324410
Pagod Syndrome	Meningocele, Abnormal morphology of female internal genitalia, Abnormality of the uterus, Agonadi...	ORPHA:991
Testicular Agenesis	Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen...	ORPHA:325124
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Macroorchidism	OMIM:618874
Trisomy 20P	Hypospadias, Macroorchidism, Spina bifida, Cryptorchidism, Umbilical hernia	ORPHA:261318
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni...	ORPHA:1772
Isolated Thyroid-Stimulating Hormone Deficiency	Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati...	ORPHA:90674
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Carney Complex	Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Euthyroi...	ORPHA:1359
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism	ORPHA:3063
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Familial Glucocorticoid Deficiency	Testicular adrenal rest tumor, Azoospermia, Precocious puberty, Cryptorchidism, Leydig cell neopl...	ORPHA:361
Hereditary Amyloidosis With Primary Renal Involvement	Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility	ORPHA:85450
Fraser Syndrome	Hypospadias, Abnormal vagina morphology, Myelomeningocele, Urethral atresia, Small scrotum, Bicor...	ORPHA:2052
Ciliary Dyskinesia, Primary, 14	Male infertility, Immotile sperm, Reduced sperm motility	OMIM:613807
Specc1L-Related Hypertelorism Syndrome	Female pseudohermaphroditism, Cryptorchidism, Shawl scrotum, Umbilical hernia	ORPHA:1519
Fanconi Anemia, Complementation Group A	Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism	OMIM:227650
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
C Syndrome	Female pseudohermaphroditism, Cryptorchidism	ORPHA:1308
Proteus Syndrome	Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Sirenomelia, Long penis, Enlarged polycysti...	ORPHA:744
Primary Ciliary Dyskinesia	Female infertility, Male infertility, Abnormal sperm motility	ORPHA:244
Aspartylglucosaminuria	Macroorchidism, Umbilical hernia	ORPHA:93
Aspartylglucosaminuria	Macroorchidism	OMIM:208400
Bloom Syndrome	Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia	ORPHA:125
Ciliary Dyskinesia, Primary, 1	Male infertility	OMIM:244400
Noonan Syndrome 1	Hypospadias, Cryptorchidism, Male infertility, Hypogonadism	OMIM:163950
Alström Syndrome	Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Irregular menstruatio...	ORPHA:64
Cystinosis, Nephropathic	Male hypogonadism, Male infertility	OMIM:219800
Cystic Fibrosis	Male infertility	OMIM:219700

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 Amhr2

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 Amhr2.

No publications found that use IMPC mice or data for Amhr2.

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MGI Allele	Allele Type	Produced
Amhr2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Amhr2^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Amhr2^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Amhr2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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