Gene Summary

Name:
CUB domain containing protein 2
Synonyms:
D030010E02Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
blind uterus Cdcp2em1(IMPC)Mbp HOM Early adult 0.00
small spleen Cdcp2em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

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

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Cdcp2 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 Cdcp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
46,Xy Sex Reversal 3
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... OMIM:612965
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... OMIM:273250
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:612964
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... OMIM:614837
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos OMIM:237100
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... ORPHA:90797
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619203
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... OMIM:614841
Perrault Syndrome 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619665
Amed Syndrome, Digenic
Leukopenia, Anemia, Bone marrow hypocellularity, Acute myeloid leukemia, Thrombocytopenia, Hypopl... OMIM:619151
Mirage Syndrome
Hypospadias, Leukopenia, Anemia, Lymphopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, C... OMIM:617053
Gracile Bone Dysplasia
Micropenis, Hypoplastic spleen, Asplenia OMIM:602361
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Microphthalmia, Syndromic 9
Bicornuate uterus, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen, Hypoplasia of the u... OMIM:601186
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus OMIM:617466
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... ORPHA:90793
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Bifid scrotum, Accessory spleen, Micropenis, Ambiguous genitalia, Hepatopu... OMIM:618280
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
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
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
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
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
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Pearson Syndrome
Hepatomegaly, Neutropenia, Thrombocytopenia, Macronodular cirrhosis, Bone marrow hypocellularity,... ORPHA:699
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
Oeis Complex
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... OMIM:258040
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... OMIM:119500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys ORPHA:2237
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... ORPHA:94095
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina OMIM:271520
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
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia, Aplasia of the uterus ORPHA:3320
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Aplasia of the uterus, Pancreatic cysts, Anemia, Hepatosplenomegaly, Thrombocytopen... OMIM:274000
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal scrotal rugatio... ORPHA:284339
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... OMIM:614527
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Hydrolethalus Syndrome 1
Hypospadias, Accessory spleen, Abnormal vagina morphology, Bifid uterus OMIM:236680
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Cystocele, Cry... ORPHA:322
Limb-Mammary Syndrome
Aplasia of the ovary, Aplasia of the uterus ORPHA:69085
Townes-Brocks Syndrome 1
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... OMIM:107480
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Accessory spleen, Cryptorchidism, Biliary tract abnormality, ... OMIM:194190
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cervical insufficiency, Anemia, Uterine prolapse, Cystocele, Cryptorchidism OMIM:130050
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Rubinstein-Taybi Syndrome 1
Hypospadias, Bifid uterus, Leukemia, Papillary cystadenoma of the epididymis, Premature thelarche... OMIM:180849
Coffin-Siris Syndrome 1
Hypospadias, Cryptorchidism, Clitoral hypertrophy, Aplasia of the uterus OMIM:135900
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Aplasia of the uterus, Anteriorly displaced genitalia, Cryptorchidism OMIM:276820
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649
Pallister-Killian Syndrome
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Small scrotum, Aplasia of the upper... OMIM:601803

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 Cdcp2

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 Cdcp2.

No publications found that use IMPC mice or data for Cdcp2.

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MGI Allele Allele Type Produced
Cdcp2em1(IMPC)Mbp Deletion Mice, Tissue
Cdcp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cdcp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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