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Gene: Dmrta1 MGI:2653627

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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:
doublesex and mab-3 related transcription factor like family A1
Synonyms:
Dmrt4

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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 Dmrta1 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 Dmrta1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Reduced social reciprocity OMIM:618830
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:608631
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity OMIM:618103
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity OMIM:606053
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Reduced social reciprocity OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 6
Reduced social reciprocity OMIM:611092
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Reduced social reciprocity ORPHA:329249
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Decreased testicular size, Cryptorchidism, Reduced social reciprocity, Increas... ORPHA:163976
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma ORPHA:314478
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Hypoplasia o... ORPHA:96263
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Fg Syndrome Type 1
Small pituitary gland, Hypospadias, Abnormal social behavior, Cryptorchidism ORPHA:93932
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, External genital hypoplasia, Reduced socia... ORPHA:177907
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Abnormal social behavior ORPHA:309271
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Vaginal atresia, Micropenis OMIM:209900
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Inappropriate laughter... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Inappropriate laughter... ORPHA:363958
Mend Syndrome
Abnormal social behavior, Cryptorchidism ORPHA:401973
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Tuberous Sclerosis Complex
Pituitary adenoma, Pheochromocytoma, Parathyroid adenoma, Parathyroid hyperplasia, Abnormal socia... ORPHA:805
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Turner Syndrome
Abnormality of the ovary, Gonadoblastoma, Delayed early-childhood social milestone development, I... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Gonadoblastoma, Delayed early-childhood social milestone development, I... ORPHA:99228
Monosomy X
Abnormality of the ovary, Gonadoblastoma, Delayed early-childhood social milestone development, I... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Gonadoblastoma, Delayed early-childhood social milestone development, I... ORPHA:99413
Williams Syndrome
Precocious puberty, Cholelithiasis, Cryptorchidism, Overfriendliness, Polycystic ovaries, Hypogon... ORPHA:904
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646

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 Dmrta1

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 Dmrta1.

No publications found that use IMPC mice or data for Dmrta1.

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MGI Allele Allele Type Produced
Dmrta1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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