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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
preweaning lethality, incomplete penetrance Pbld2em5(IMPC)Bay 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

26 Images

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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

26 Images

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X-ray

XRay Images Forepaw

26 Images

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X-ray

XRay Images Whole Body Dorso Ventral

26 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Skull Lateral Orientation

26 Images

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Eye Morphology

VIP of right fundus

16 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
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
46,Xy Sex Reversal 3
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... OMIM:612965
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:612964
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Abnormality of the uterine cervix, Partial vaginal septum, Uterus didelphys ORPHA:3411
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... OMIM:614837
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
Perrault Syndrome 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... OMIM:273250
Premature Ovarian Failure 18
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619203
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:612310
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619665
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos OMIM:237100
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... OMIM:614841
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism OMIM:615524
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Hereditary Breast And Ovarian Cancer Syndrome
Ovarian neoplasm, Abnormal fallopian tube morphology, Prostate cancer ORPHA:145
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Azoospermia, Clitoral hypertrophy, Bicornuate ut... OMIM:400045
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma OMIM:612359
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314478
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Caudal Duplication
Cryptorchidism, Abnormal penis morphology, Uterus didelphys ORPHA:1756
Perrault Syndrome 4
Bicornuate uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the ut... OMIM:615300
Partial Androgen Insensitivity Syndrome
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... ORPHA:90797
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus OMIM:617466
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... ORPHA:3130
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus OMIM:191830
Donnai-Barrow Syndrome
Abnormality of the uterus, Bicornuate uterus ORPHA:2143
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... OMIM:202010
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Shawl scrotum OMIM:145420
Normosmic Congenital Hypogonadotropic Hypogonadism
Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Male hypogonadis... ORPHA:432
Kennerknecht Syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
Ehlers-Danlos Syndrome, Classic-Like
Bicornuate uterus, Ambiguous genitalia, female OMIM:606408
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... OMIM:119500
Duplication Of Urethra
Hypospadias, Bifid scrotum, Chordee, Uterus didelphys, Coronal hypospadias, Clitoral hypertrophy,... ORPHA:237
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Labial hypoplasia, Bicornuate uterus, Rectovaginal fistula, Clitoral hypertrophy OMIM:300707
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Ambiguous genitalia, male, Micropenis,... ORPHA:90796
Hand-Foot-Genital Syndrome
Hypospadias, Bicornuate uterus, Abnormality of the urethra, Abnormality of the uterus ORPHA:2438
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Chordee, Uterus didelphys, Micropenis OMIM:140000
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Oeis Complex
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... OMIM:258040
46,Xx Gonadal Dysgenesis
Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Premature ovarian insufficiency ORPHA:243
Prune Belly Syndrome
Congenital posterior urethral valve, Urogenital sinus anomaly, Abnormality of the uterus, Cryptor... ORPHA:2970
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... ORPHA:90793
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, Micropenis, Premature ovarian in... OMIM:241080
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys ORPHA:2237
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:289548
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:110100
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Chordee, Clitoral hypertrophy, Micropenis, Ovotestis, Hypoplasia of the uterus OMIM:309801
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal spermatogenesi... ORPHA:3464
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... ORPHA:94095
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Pseudotrisomy 13 Syndrome
Bicornuate uterus, Micropenis, Cryptorchidism OMIM:264480
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro... OMIM:618820
Microphthalmia, Syndromic 9
Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus OMIM:601186
Matthew-Wood Syndrome
Abnormality of the uterus, Cryptorchidism ORPHA:2470
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina OMIM:271520
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Micropenis, Endometriosis, Premature ovarian insufficiency ORPHA:363444
Microgastria-Limb Reduction Defects Association
Bicornuate uterus, Splenogonadal fusion, Cryptorchidism OMIM:156810
Fryns Syndrome
Hypospadias, Bicornuate uterus, Cryptorchidism ORPHA:2059
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Bicornuate uterus, Epididymal cyst, Hypoplasia of the uterus OMIM:137920
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... OMIM:614527
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Vaginal atresia, Micropenis, Abnormal fallopian tube morphology, Crypt... ORPHA:1655
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Bifid scrotum, Micropenis, Ambiguous genitalia, Cryptorchidism OMIM:618280
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Fused labia majora, Testicular adrenal rest... ORPHA:90794
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Uterus didelphys OMIM:200980
Waardenburg Syndrome
Abnormality of the uterus, Abnormal vagina morphology ORPHA:3440
Currarino Syndrome
Rectovaginal fistula, Bicornuate uterus, Septate vagina OMIM:176450
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Labial hypoplasia, Bicornuate uterus, Clitoral hypertrophy ORPHA:140952
Pagod Syndrome
Abnormal morphology of female internal genitalia, Abnormality of the uterus, Agonadism, Abnormal ... ORPHA:991
Meacham Syndrome
Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Blind vagina OMIM:608978
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Bicornuate uterus, Papillary cystadenoma of the epididymis, Absent vas deferens ORPHA:93111
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal scrotal rugatio... ORPHA:284339
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Cystocele, Cry... ORPHA:322
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Mosaic Trisomy 9
Hypoplasia of penis, Abnormality of the uterus, Abnormal fallopian tube morphology, Cryptorchidis... ORPHA:99776
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Cryptorchidism, Shawl scrotum ORPHA:2745
Bartsocas-Papas Syndrome 1
Hypoplastic labia majora, Bicornuate uterus, Micropenis, Ambiguous genitalia, Bilateral cryptorch... OMIM:263650
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Septate vagina, Uterus didelphys OMIM:617925
Fraser Syndrome
Hypospadias, Abnormal vagina morphology, Urethral atresia, Small scrotum, Bicornuate uterus, Vagi... ORPHA:2052
Fanconi Anemia
Hypospadias, Azoospermia, Abnormal preputium morphology, Absent testis, Abnormality of the uterus... ORPHA:84
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Bicornuate uterus, Micropenis OMIM:269150
Townes-Brocks Syndrome 1
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... OMIM:107480
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Polycystic ovaries, Premature ovarian insufficiency, Hypergonadotropic hypogonadism... ORPHA:572333
Smith-Lemli-Opitz Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Micropenis, Ambiguous genitalia, Septate vagina, C... OMIM:270400
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Aplasia/hypoplasia of the uterus, Aplasia of the ovary, Agonadism, Non-obstructive ... ORPHA:2232
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Alg9-Cdg
Bicornuate uterus, Hypoplasia of the ovary ORPHA:79328
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Microsporidiosis
Abnormality of the endometrium, Abnormal fallopian tube morphology, Urethritis, Prostatitis ORPHA:2552
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Ulnar-Mammary Syndrome
Abnormality of the uterus, Cryptorchidism, Hypoplasia of penis ORPHA:3138
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cervical insufficiency, Uterine prolapse, Cystocele, Cryptorchidism OMIM:130050
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Bifid uterus OMIM:236680
Fryns Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Cryptorchidism, Shawl scrotum OMIM:229850
Fraser Syndrome 1
Hypospadias, Clitoral hypertrophy, Bicornuate uterus, Micropenis, Vaginal atresia, Cryptorchidism OMIM:219000
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Limb-Mammary Syndrome
Aplasia of the ovary, Aplasia of the uterus ORPHA:69085
Okamoto Syndrome
Bifid uterus ORPHA:2729
Rubinstein-Taybi Syndrome 1
Hypospadias, Bifid uterus, Papillary cystadenoma of the epididymis, Premature thelarche, Cryptorc... OMIM:180849
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
7Q11.23 Microduplication Syndrome
Hypospadias, Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Cryptorc... ORPHA:96121
Meckel Syndrome, Type 1
External genital hypoplasia, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality ... OMIM:249000
Cowden Syndrome
Endometrial carcinoma, Abnormal penis morphology, Abnormality of the uterus, Enlarged polycystic ... ORPHA:201
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Uterus didelphys, Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:93271
Peters-Plus Syndrome
Hypospadias, Hypoplastic labia majora, Hypoplasia of the vagina, Clitoral hypoplasia, Cryptorchid... OMIM:261540
Lacrimoauriculodentodigital Syndrome
Bicornuate uterus, Cryptorchidism ORPHA:2363
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicornuate uterus OMIM:265380
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Long penis, Clitoral hypertrophy, Bicornuate uterus, Cryptorc... OMIM:268300
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Hypoplasia of the uterus ORPHA:709
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Townes-Brocks Syndrome
Hypospadias, Urethral valve, Abnormal vagina morphology, Bifid scrotum, Rectovaginal fistula, Rec... ORPHA:857
Coffin-Siris Syndrome 1
Hypospadias, Cryptorchidism, Clitoral hypertrophy, Aplasia of the uterus OMIM:135900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unicornuate uterus, Cryptorchidism, Micropenis OMIM:619503
Wolf-Hirschhorn Syndrome
Hypospadias, Cryptorchidism, Precocious puberty, Aplasia of the uterus OMIM:194190
22Q11.2 Deletion Syndrome
Hypospadias, Cryptorchidism, Abnormality of the uterus ORPHA:567
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Aplasia of the uterus, Anteriorly displaced genitalia, Cryptorchidism OMIM:276820
Cornelia De Lange Syndrome
Hypospadias, Hypoplastic labia majora, Abnormality of the uterus, Cryptorchidism, Hypoplasia of p... ORPHA:199
Pallister-Hall Syndrome
Hypospadias, Aplasia/hypoplasia of the uterus, Small scrotum, Aplasia/Hypoplasia of the vagina, D... ORPHA:672
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Uterine prolapse ORPHA:287
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Cryptorchidism, Precocious puberty ORPHA:438213
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Pallister-Killian Syndrome
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Small scrotum, Aplasia of the upper... 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.

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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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