Gene Summary

Name:
predicted gene 14496
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal uterus morphology Gm14496em2(IMPC)Mbp HOM Early adult 0.00
hydrometra Gm14496em2(IMPC)Mbp HOM Early adult 0.00
abnormal cecum morphology Gm14496em2(IMPC)Mbp HOM Early adult 0.00
enlarged epididymis Gm14496em2(IMPC)Mbp HOM Early adult 0.00
abnormal epididymis morphology Gm14496em2(IMPC)Mbp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Gm14496 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gm14496 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Hereditary Breast And/Or Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Primary peritoneal carcinoma ORPHA:145
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormal rectum morphology, Hamartomatous polyposis, Abnormal prosta... ORPHA:251992
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Ectopic... ORPHA:83628
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Bifid uvula, Cleft soft palate, Cleft palate ORPHA:2736
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Townes-Brocks Syndrome 2
Bifid uterus, Anal atresia, Rectovaginal fistula, Hypospadias OMIM:617466
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Cleft palate, Bicornuate uterus OMIM:601076
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Duodenal adenoc... ORPHA:157794
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Anal atresia, High palate, Hypoplasia of the uterus... OMIM:154230
Oeis Complex
Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitalia, female, Ab... OMIM:258040
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Cleft palate, Bicornuate uterus OMIM:615300
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Cleft palate ORPHA:247768
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... ORPHA:90793
Popliteal Pterygium Syndrome
Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o... OMIM:119500
Muir-Torre Syndrome
Colonic diverticula, Duodenal adenocarcinoma, Benign gastrointestinal tract tumors, Ovarian neopl... OMIM:158320
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... ORPHA:432
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:168558
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:289548
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Meckel Syndrome 12
Vaginal atresia, Bifid uvula, Hypoplasia of the uterus OMIM:616258
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... ORPHA:90796
Renal Agenesis, Bilateral
Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate, Abnormal morphology of fe... ORPHA:1848
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Anal atresia, Aplasia of the vagina OMIM:271520
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Ovotestis, Chordee, Anal atresia, ... OMIM:309801
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Cleft palate ORPHA:2237
Phocomelia, Schinzel Type
High, narrow palate, Cryptorchidism, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistu... ORPHA:2879
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Tracheoesophageal fistula, Esophageal atresia, Micropenis, Anal atresia, C... OMIM:614083
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus, Bicornuate uterus, Hypospadias OMIM:137920
Exstrophy-Epispadias Complex
Penoscrotal transposition, Anal stenosis, Bifid scrotum, Cystocele, Cryptorchidism, Abnormality o... ORPHA:322
Fg Syndrome Type 1
Gastroesophageal reflux, Abnormal large intestine morphology, Cryptorchidism, Anal atresia, High ... ORPHA:93932
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Cleft palate ORPHA:3320
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Cardiac-Urogenital Syndrome
Bifid scrotum, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia... OMIM:618280
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, High palate, Bifid uterus ORPHA:1521
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... ORPHA:90794
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Hypoplastic labia majora, Anal atresia, Hypoplasia of the uterus, Clitoral hy... OMIM:618419
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, H... OMIM:614527
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H... OMIM:241080
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, High palate OMIM:615866
Limb-Mammary Syndrome
Bifid uvula, Submucous cleft soft palate, Aplasia of the ovary, Aplasia of the uterus, Cleft hard... ORPHA:69085
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, High palate OMIM:110100
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Uterine neoplasm, Intestinal polyposis, Narrow palate, Hamar... ORPHA:109
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Hypo... ORPHA:3464
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Bifid scrotum, Cryptorchidism, Tracheoesophageal fistula,... OMIM:107480
Floating-Harbor Syndrome
Varicocele, Glandular hypospadias, Cryptorchidism, Celiac disease, Epididymal cyst, Hypospadias OMIM:136140
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism OMIM:601186
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Gastroesophageal reflux, Cryptorchidism, Celiac disease, Epididym... ORPHA:2044
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, High palate,... OMIM:135900
Okamoto Syndrome
Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Intestinal malrotation,... ORPHA:2729
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Meckel diverticulum, Cleft palate OMIM:274000
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Anteriorly placed anus... OMIM:201750
Loeys-Dietz Syndrome
Bifid uvula, High palate, Uterine rupture ORPHA:60030
Wolf-Hirschhorn Syndrome
Precocious puberty, Malrotation of small bowel, Gastroesophageal reflux, Cryptorchidism, Aplasia ... OMIM:194190
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Abnormal vagina morphology, Cleft palate OMIM:236680
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Narrow palate, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genital... OMIM:276820
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Cleft palate OMIM:256520
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Pallister-Killian Syndrome
Small scrotum, Anal stenosis, Bifid uvula, Anteriorly placed anus, Intestinal malrotation, Crypto... OMIM:601803
Peters Plus Syndrome
Intestinal fistula, Cryptorchidism, Anal atresia, Cleft palate, Hypoplasia of the uterus, Hypospa... ORPHA:709
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Uterine rupture, Gastrointestinal infarctions, Cystocele, Cryptorchidism, Ut... ORPHA:286
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649
Peters-Plus Syndrome
Anteriorly placed anus, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Cleft... OMIM:261540

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 Gm14496

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 Gm14496.

No publications found that use IMPC mice or data for Gm14496.

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MGI Allele Allele Type Produced
Gm14496em2(IMPC)Mbp Exon Deletion Mice, Tissue

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