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Gene: Zbtb48 MGI:2140248

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Gene Summary

Name:
zinc finger and BTB domain containing 48
Synonyms:
Hkr3,  0610011D15Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hydrometra Zbtb48em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Zbtb48em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Zbtb48em1(IMPC)Mbp HOM Late adult 0.00
decreased exploration in new environment Zbtb48em1(IMPC)Mbp HOM Late adult 3.09×10-06
increased total body fat amount Zbtb48em1(IMPC)Mbp HOM Early adult 4.04×10-05
impaired glucose tolerance Zbtb48em1(IMPC)Mbp HOM Late adult 2.82×10-07
abnormal bone structure Zbtb48em1(IMPC)Mbp HOM Early adult 5.71×10-06
increased bone mineral content Zbtb48em1(IMPC)Mbp HOM Early adult 1.12×10-05
abnormal uterus morphology Zbtb48em1(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 Dorso Ventral

31 Images

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X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Human diseases caused by Zbtb48 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 Zbtb48 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia,... OMIM:614837
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Perrault Syndrome 4
Hypoplasia of the uterus, Bicornuate uterus, Osteoporosis, Hypoplasia of the ovary OMIM:615300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryp... ORPHA:432
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Estrogen Resistance
Osteopenia, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Satoyoshi Syndrome
Hypoplasia of the uterus, Osteolytic defects of the phalanges of the hand OMIM:600705
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Osteoporosis, Hypoplasi... ORPHA:785
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Bifid uterus ORPHA:2736
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... ORPHA:90793
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina OMIM:146255
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Meckel Syndrome 12
Hypoplasia of the uterus, Arthrogryposis multiplex congenita, Vaginal atresia OMIM:616258
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Meckel Syndrome 14
Ambiguous genitalia, Decreased calvarial ossification, Aplasia of the uterus OMIM:619879
Oeis Complex
Omphalocele, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... OMIM:258040
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Craniosynostosis, Bifid uterus ORPHA:1521
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina ORPHA:2237
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Woodhouse-Sakati Syndrome
Osteopenia, Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal sp... ORPHA:3464
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Hypoplasia of the uterus, Chordee, Micro... OMIM:309801
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Microphthalmia, Syndromic 9
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplasia of the uterus, Bicor... OMIM:601186
Exstrophy-Epispadias Complex
Bifid scrotum, Omphalocele, Inguinal hernia, Bifid uterus, Epispadias, Cryptorchidism, Cystocele,... ORPHA:322
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Loeys-Dietz Syndrome
Atypical scarring of skin, Camptodactyly of finger, Craniosynostosis, Uterine rupture ORPHA:60030
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Hypoplastic labia majora, Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hyp... OMIM:618419
Ehlers-Danlos Syndrome, Vascular Type
Inguinal hernia, Cryptorchidism, Cystocele, Cigarette-paper scars, Osteolytic defects of the phal... OMIM:130050
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, Aplasi... OMIM:618280
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Craniosynostosis, Cryptorchidism, ... OMIM:201750
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Elbow flexion contracture, Decreased calvarial ossifi... OMIM:276820
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens OMIM:137920
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Abnormal sternal ossification, Aplasia of the ut... OMIM:194190
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly skin, Camptodacty... OMIM:256520
Hydrolethalus Syndrome 1
Omphalocele, Abnormal vagina morphology, Hypospadias, Bifid uterus OMIM:236680
Coffin-Siris Syndrome 1
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia of the ute... OMIM:135900
Okamoto Syndrome
Omphalocele, Bifid uterus ORPHA:2729
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Cystocele, Cigarette-paper scars, Osteolysis, Uteri... ORPHA:286
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Small scrotum, Hypospadias, Congenital diaphragmatic hernia, Crypto... OMIM:601803
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649

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 Zbtb48

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 Zbtb48.

No publications found that use IMPC mice or data for Zbtb48.

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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
Zbtb48em1(IMPC)Mbp Exon Deletion Mice, Tissue
Zbtb48tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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