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Gene: Camkv MGI:2384296

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Gene Summary

Name:
CaM kinase-like vesicle-associated
Synonyms:
N/A

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
enlarged cecum Camkvem1(IMPC)Mbp HOM Early adult 0.00
abnormal cecum morphology Camkvem1(IMPC)Mbp HOM Early adult 0.00
increased freezing behavior Camkvem1(IMPC)Mbp HOM   Early adult 7.16×10-06
hydrometra Camkvem1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Camkvem1(IMPC)Mbp HOM   Early adult 3.75×10-05
abnormal uterus morphology Camkvem1(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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Camkv 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 Camkv by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Macro... ORPHA:3077
Hereditary Breast And/Or Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Primary peritoneal carcinoma ORPHA:145
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Macrocephaly-Intellectual Disability-Autism Syndrome
Attention deficit hyperactivity disorder, Penile freckling, Intestinal polyposis, Lymphoid nodula... ORPHA:210548
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Ectopic... ORPHA:83628
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Perrault Syndrome 4
Hypoplasia of the ovary, Cognitive impairment, Hypoplasia of the uterus, Bicornuate uterus, Cleft... OMIM:615300
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Increased fecal coproporphyrin 3, Confusion, Delirium... ORPHA:100924
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Townes-Brocks Syndrome 2
Bifid uterus, Anal atresia, Rectovaginal fistula, Hypospadias OMIM:617466
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Cleft palate, Bicornuate uterus OMIM:601076
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Bifid uvula, Cleft soft palate, Cleft palate ORPHA:2736
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Anal atresia, High palate, Hypoplasia of the uterus... OMIM:154230
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Depression, Non-obstructive azoospermia, Decreased testicular size, Azoospermi... ORPHA:432
Oeis Complex
Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitalia, female, Ab... OMIM:258040
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Hypoplasia of the uterus OMIM:619151
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo... ORPHA:92050
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... 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
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Popliteal Pterygium Syndrome
Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Dementia, Hy... OMIM:119500
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Cleft palate ORPHA:247768
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Attention deficit hyperactivity disorder OMIM:617914
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Attention deficit hyperactivity disorder, Tracheoesophageal fistula, Esoph... OMIM:614083
Fg Syndrome Type 1
Gastroesophageal reflux, Abnormal large intestine morphology, Cryptorchidism, Attention deficit h... ORPHA:93932
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... ORPHA:90793
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Meckel Syndrome 12
Vaginal atresia, Bifid uvula, Hypoplasia of the uterus OMIM:616258
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:168558
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Ovotestis, Chordee, Anal atresia, ... OMIM:309801
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:289548
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Anal atresia, Aplasia of the vagina OMIM:271520
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Cleft palate ORPHA:2237
Phocomelia, Schinzel Type
High, narrow palate, Cryptorchidism, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistu... ORPHA:2879
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... ORPHA:90796
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Cleft palate ORPHA:3320
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, High palate, Unicornu... OMIM:614527
Exstrophy-Epispadias Complex
Penoscrotal transposition, Anal stenosis, Bifid scrotum, Cystocele, Cryptorchidism, Abnormality o... ORPHA:322
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, High palate, Bifid uterus ORPHA:1521
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Hypoplastic labia majora, Anal atresia, Hypoplasia of the uterus, Clitoral hy... OMIM:618419
Cardiac-Urogenital Syndrome
Bifid scrotum, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia... OMIM:618280
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Uterine neoplasm, Intestinal polyposis, Narrow palate, Hamar... ORPHA:109
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Gastroesophageal reflux, Abnormal fear-induced behavior, Intestinal malr... ORPHA:353281
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, High palate OMIM:615866
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... ORPHA:90794
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Hyperactivity, Aplasia of the vagina ORPHA:457284
Limb-Mammary Syndrome
Bifid uvula, Submucous cleft soft palate, Aplasia of the ovary, Aplasia of the uterus, Cleft hard... ORPHA:69085
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Woodhouse-Sakati Syndrome
Mental deterioration, Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogen... ORPHA:3464
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, Aggressive b... OMIM:135900
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, High palate OMIM:110100
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Bifid scrotum, Cryptorchidism, Tracheoesophageal fistula,... OMIM:107480
Okamoto Syndrome
Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Intestinal malrotation,... ORPHA:2729
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Meckel diverticulum, Cleft palate OMIM:274000
Wolf-Hirschhorn Syndrome
Precocious puberty, Malrotation of small bowel, Gastroesophageal reflux, Cryptorchidism, Aplasia ... OMIM:194190
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H... OMIM:241080
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Narrow palate, Gastroesophageal reflux, Abnormal fear-induced behavior, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Narrow palate, Gastroesophageal reflux, Abnormal fear-induced behavior, ... ORPHA:353277
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism OMIM:601186
Norrie Disease
Self-injurious behavior, Uterine rupture, Cryptorchidism, Irritability, Attention deficit hyperac... ORPHA:649
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Anteriorly placed anus... OMIM:201750
Loeys-Dietz Syndrome
Bifid uvula, High palate, Uterine rupture ORPHA:60030
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus, Bicornuate uterus, Hypospadias OMIM:137920
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Abnormal vagina morphology, Cleft palate OMIM:236680
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Narrow palate, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genital... OMIM:276820
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Uterine rupture, Gastrointestinal infarctions, Cystocele, Cryptorchidism, Ut... ORPHA:286
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Cleft palate OMIM:256520
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Pallister-Killian Syndrome
Small scrotum, Anal stenosis, Bifid uvula, Anteriorly placed anus, Intestinal malrotation, Crypto... OMIM:601803
Peters Plus Syndrome
Intestinal fistula, Cryptorchidism, Anal atresia, Cleft palate, Hypoplasia of the uterus, Hypospa... ORPHA:709
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Peters-Plus Syndrome
Anteriorly placed anus, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Cleft... OMIM:261540

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 Camkv

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 Camkv.

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

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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
Camkvem1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Camkvtm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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