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Gene: Pbld2 MGI:1914557

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Gene Summary

Name:
phenazine biosynthesis-like protein domain containing 2
Synonyms:
3110049J23Rik

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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
enlarged uterus Pbld2tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal uterus morphology Pbld2tm1.1(KOMP)Vlcg 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

36 Images

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Eye Morphology

VIP of right eye

34 Images

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Eye Morphology

VIP of left eye

33 Images

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Eye Morphology

VIP of right fundus

34 Images

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Eye Morphology

VIP of left fundus

33 Images

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X-ray

XRay Images Forepaw

26 Images

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X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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X-ray

XRay Images Skull Lateral Orientation

26 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

26 Images

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Human diseases caused by Pbld2 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 Pbld2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Cervical Cancer
Cervix cancer OMIM:603956
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Hydrocolpos, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Abnormal fallopian tube morphology ORPHA:145
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Fryns Microphthalmia Syndrome
Unicornuate uterus OMIM:600776
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary ORPHA:314478
Cowden-Like syndrome
Uterine leiomyoma, Endometrial carcinoma OMIM:612359
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Caudal Duplication
Uterus didelphys, Abnormal penis morphology, Cryptorchidism ORPHA:1756
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia OMIM:191830
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Ambiguous genitalia, female, Male pseudohermaphrod... OMIM:194080
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Omodysplasia 2
Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidism, Micropenis OMIM:164745
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... ORPHA:432
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Ehlers-Danlos Syndrome, Classic-Like, 1
Bicornuate uterus, Ambiguous genitalia, female OMIM:606408
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Duplication Of Urethra
Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy... ORPHA:237
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Uterus didelphys, Chordee, Micropenis OMIM:140000
Teebi Hypertelorism Syndrome 1
Shawl scrotum, Bicornuate uterus, Hydrocele testis OMIM:145420
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Prune Belly Syndrome
Decreased testicular size, Cryptorchidism, Urogenital sinus anomaly, Abnormality of the uterus ORPHA:2970
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia ORPHA:2237
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary ORPHA:243
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Bicornuate uterus ORPHA:958
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Rectovaginal fistula, Labial hypoplasia, Bicornuate uterus, Septate vagina OMIM:300707
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... OMIM:241080
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... OMIM:618820
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus ORPHA:140952
Currarino Syndrome
Septate vagina, Bicornuate uterus, Rectovaginal fistula OMIM:176450
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus ORPHA:2470
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... ORPHA:3464
Fryns Syndrome
Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Meacham Syndrome
Blind vagina, Septate vagina, Bicornuate uterus, Male pseudohermaphroditism OMIM:608978
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Abnormality of the uterus, Vaginal atresia, Cryptorchidism, M... ORPHA:1655
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Bicornuate uterus, Hypospadias, Papillary cystadenoma of the epididymis ORPHA:93111
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia OMIM:618419
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Acrorenal-Mandibular Syndrome
Uterus didelphys, Bicornuate uterus, Unicornuate uterus OMIM:200980
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Renal Cysts And Diabetes Syndrome
Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus OMIM:137920
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Enlarged ovaries, Cryptorchidism ORPHA:2745
Waardenburg Syndrome
Abnormality of the uterus, Abnormal vagina morphology ORPHA:3440
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Pagod Syndrome
Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uterus, Agonadism, A... ORPHA:991
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Bartsocas-Papas Syndrome 1
Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus, Bilateral crypt... OMIM:263650
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... ORPHA:322
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Hypospadias, Endometriosis ORPHA:363444
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... ORPHA:90794
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypoplasia of penis, A... ORPHA:99776
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Hypoplastic labia minora, Bicornuate uterus, Small scrotum, Micropenis, Hypoplastic ... OMIM:269150
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Micropenis OMIM:617925
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Bicornuate uterus, Abnormal testis morph... ORPHA:84
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Agonadism, Hypergonadotropic hypogonadism, Aplasia/hypoplasia of the uterus, Cryptorchidism, Non-... ORPHA:2232
Renal Agenesis
Aplasia/hypoplasia of the uterus, Absent vas deferens ORPHA:411709
Alg9-Cdg
Hypoplasia of the ovary, Bicornuate uterus ORPHA:79328
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Bifid scrotum, Bicornuate uterus, Precocious puberty, Small... OMIM:270400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Fryns Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Cryptorchidism OMIM:229850
Microsporidiosis
Abnormal endometrium morphology, Prostatitis, Abnormal fallopian tube morphology ORPHA:2552
Ulnar-Mammary Syndrome
Cryptorchidism, Abnormality of the uterus, Hypoplasia of penis ORPHA:3138
Fraser Syndrome
Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher... ORPHA:2052
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Fraser Syndrome 1
Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Vaginal atresia, Cryptorchidism, Micropenis OMIM:219000
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis OMIM:614083
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism ORPHA:572333
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo... OMIM:618280
Ulnar-Mammary Syndrome
Imperforate hymen, Bicornuate uterus, Small scrotum, Shawl scrotum, Micropenis OMIM:181450
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... OMIM:107480
Okamoto Syndrome
Bifid uterus ORPHA:2729
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicornuate uterus, Hypospadias OMIM:265380
Hermansky-Pudlak Syndrome 6
Perineal fistula, Endometriosis OMIM:614075
Cowden Syndrome
Enlarged polycystic ovaries, Endometrial carcinoma, Abnormality of the uterus, Abnormal penis mor... ORPHA:201
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Uterus didelphys, Urethrovaginal fistula, Ambiguous genitalia, Cryptorchidism ORPHA:93271
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Bicornuate uterus ORPHA:2363
Peters Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Clitoral hypoplasia ORPHA:709
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cryptorchidism, Micropenis, Unicornuate uterus OMIM:619503
Peters-Plus Syndrome
Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of the ute... OMIM:261540
Meckel Syndrome, Type 1
Ambiguous genitalia, male, External genital hypoplasia, Abnormality of the uterus, Cryptorchidism... OMIM:249000
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:194190
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Bicornuate uterus, Cryptorc... OMIM:268300
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:135900
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypospadias, Abnormality of the uterus ORPHA:567
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Townes-Brocks Syndrome
Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal vagina morphology, Bifid scrotum... ORPHA:857
Cornelia De Lange Syndrome
Hypospadias, Hypoplasia of penis, Abnormality of the uterus, Cryptorchidism, Hypoplastic labia ma... ORPHA:199
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Uterine prolapse ORPHA:287
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Uterine prolapse, Cryptorchidism ORPHA:438213
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... OMIM:601803
Loeys-Dietz Syndrome 3
Cystocele, Uterine prolapse OMIM:613795

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 Pbld2

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 Pbld2.

No publications found that use IMPC mice or data for Pbld2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pbld2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Pbld2em3(IMPC)Bay Point Mutation Mice
Pbld2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pbld2em5(IMPC)Bay Point Mutation Mice
Pbld2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Pbld2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pbld2em4(IMPC)Bay Exon Deletion Mice
Pbld2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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