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Gene: Camkv MGI:2384296

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Gene Summary

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

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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 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 6.45×10-06
abnormal uterus morphology Camkvem1(IMPC)Mbp HOM Early adult 0.00
hydrometra Camkvem1(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

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Lynch Syndrome 8
Endometrial carcinoma, Adenomatous colonic polyposis, Colon cancer, Hereditary nonpolyposis color... OMIM:613244
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Hereditary Breast And/Or Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Prostate cancer, Primary peritoneal carcinoma, Ovarian neoplasm ORPHA:145
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
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
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma OMIM:612591
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... ORPHA:251992
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... ORPHA:3077
Lynch Syndrome 4
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm OMIM:614337
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
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
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,... ORPHA:83628
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
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
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
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
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Anal atresia, Bifid uterus OMIM:617466
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus ORPHA:2736
Satoyoshi Syndrome
Hypoplasia of the uterus, Malabsorption OMIM:600705
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Cleft palate OMIM:601076
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ... OMIM:154230
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Muir-Torre Syndrome
Colonic diverticula, Ovarian neoplasm, Colon cancer, Benign gastrointestinal tract tumors, Duoden... OMIM:158320
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Oeis Complex
Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve... OMIM:258040
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Perrault Syndrome 4
Hypoplasia of the uterus, Cleft palate, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Amed Syndrome, Digenic
Hypoplasia of the uterus, Attention deficit hyperactivity disorder OMIM:619151
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Cleft palate ORPHA:247768
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Increased fecal coproporphyrin 3, Abnormal fear-induced behavior, Depression, Agita... ORPHA:100924
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... ORPHA:70475
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Aplasia of the uterus, Attention def... OMIM:614083
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... ORPHA:90793
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder OMIM:617914
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Meckel Syndrome 12
Hypoplasia of the uterus, Bifid uvula, Vaginal atresia OMIM:616258
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... OMIM:119500
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina OMIM:146255
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Cleft palate, Hypoplasia of the uterus, Anteriorly placed anus, Chordee, ... OMIM:309801
Fg Syndrome Type 1
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric s... ORPHA:93932
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Anal atresia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
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
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Septate vagina, Uterus didelphys, Cleft palate, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula, Cleft palate... ORPHA:2879
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Aplasia of the uterus ORPHA:3320
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
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
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ... ORPHA:284339
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, High palate, Aplasia of the uterus, Un... OMIM:614527
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Exstrophy-Epispadias Complex
Bifid scrotum, Abnormality of the gastrointestinal tract, Anal stenosis, Bifid uterus, Epispadias... ORPHA:322
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, High palate, Bifid uterus ORPHA:1521
Myoectodermal Gonadal Dysgenesis Syndrome
Pyloric stenosis, Hypoplastic labia majora, Hypoplasia of the uterus, Gonadal dysgenesis, Clitora... OMIM:618419
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis... ORPHA:109
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, High palate OMIM:615866
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Aplasia of the ... OMIM:618280
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Limb-Mammary Syndrome
Cleft hard palate, Cleft palate, Aplasia of the uterus, Aplasia of the ovary, Submucous cleft sof... ORPHA:69085
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, High palate OMIM:110100
Coffin-Siris Syndrome 1
Hypospadias, Intestinal malrotation, Duodenal ulcer, Aggressive behavior, Cryptorchidism, Cleft p... OMIM:135900
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Hypospadias, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchid... ORPHA:353281
Townes-Brocks Syndrome 1
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, T... OMIM:107480
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Meckel diverticulum, Aplasia of the uterus OMIM:274000
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Bifid uterus, Cleft pala... ORPHA:2729
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cleft palate, Gastro... OMIM:194190
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... ORPHA:3464
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Hypospadias, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchid... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Hypospadias, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchid... ORPHA:353277
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Loeys-Dietz Syndrome
High palate, Bifid uvula, Uterine rupture ORPHA:60030
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens OMIM:137920
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Cleft palate, Bifid uterus OMIM:236680
Norrie Disease
Cryptorchidism, Self-injurious behavior, Irritability, Attention deficit hyperactivity disorder, ... ORPHA:649
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... OMIM:276820
Neu-Laxova Syndrome 1
Cryptorchidism, Cleft palate, Bifid uterus OMIM:256520
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, High, narrow palate, Cystocele, Gastrointestinal infarctions, Abnorm... ORPHA:286
Pallister-Killian Syndrome
Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft palate, ... 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 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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