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

IMPC Data Collections

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

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.

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
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:300494
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
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty, Shyness OMIM:300801
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Gonadal calcification, Ambiguous genitalia, Fem... ORPHA:206484
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Streak ovary, Reduced antral follicle c... OMIM:611548
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Ovarian neoplasm, Elevated circulating follicle s... OMIM:615723
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior ORPHA:444002
Premature Ovarian Failure 10
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:612885
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
Ovarian Fibrothecoma
Abnormality of the endometrium, Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314478
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries ORPHA:2795
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... ORPHA:3130
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
48,Xxxy Syndrome
Small scrotum, Abnormal social behavior, Cryptorchidism, Azoospermia, Hypoplasia of penis, Hypogo... ORPHA:96263
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Fg Syndrome Type 1
Cryptorchidism, Small pituitary gland, Hypospadias, Abnormal social behavior ORPHA:93932
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Abnormal social behavior ORPHA:309271
Bardet-Biedl Syndrome 1
Micropenis, Abnormality of the ovary, Vaginal atresia, Hypogonadism, Decreased testicular size OMIM:209900
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Abnor... ORPHA:177907
Koolen-De Vries Syndrome Due To A Point Mutation
Pineal cyst, Abnormal social behavior, Cryptorchidism, Testicular neoplasm, Precocious puberty, O... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pineal cyst, Abnormal social behavior, Cryptorchidism, Testicular neoplasm, Precocious puberty, O... ORPHA:363958
Mend Syndrome
Cryptorchidism, Abnormal social behavior ORPHA:401973
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Tuberous Sclerosis Complex
Abnormal social behavior, Parathyroid adenoma, Pheochromocytoma, Parathyroid hyperplasia, Pituita... ORPHA:805
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Turner Syndrome
Abnormal nonverbal communicative behavior, Abnormality of the ovary, Gonadoblastoma, Delayed soci... ORPHA:881
Mosaic Monosomy X
Abnormal nonverbal communicative behavior, Abnormality of the ovary, Gonadoblastoma, Delayed soci... ORPHA:99228
Monosomy X
Abnormal nonverbal communicative behavior, Abnormality of the ovary, Gonadoblastoma, Delayed soci... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormal nonverbal communicative behavior, Abnormality of the ovary, Gonadoblastoma, Delayed soci... ORPHA:99413
Williams Syndrome
Cholelithiasis, Hypogonadotropic hypogonadism, Polycystic ovaries, Abnormal social behavior, Cryp... 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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