Gene Summary

Name:
c-src tyrosine kinase
Synonyms:
N/A

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
embryonic lethality prior to tooth bud stage Csktm2b(EUCOMM)Hmgu HOM   E12.5 0.00
abnormal embryo turning Csktm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal neural tube closure Csktm2b(EUCOMM)Hmgu HOM E9.5 0.00
decreased total retina thickness Csktm2b(EUCOMM)Hmgu HET Early adult 3.19×10-08
abnormal retina vasculature morphology Csktm2b(EUCOMM)Hmgu HET   Early adult 5.05×10-06
abnormal embryo size Csktm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal retina inner nuclear layer morphology Csktm2b(EUCOMM)Hmgu HET   Early adult 5.68×10-09
embryonic growth retardation Csktm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal embryo development Csktm2b(EUCOMM)Hmgu HOM E9.5 0.00
preweaning lethality, complete penetrance Csktm2b(EUCOMM)Hmgu HOM   Early adult 0.00

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote Not available
Heart N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote Ambiguous
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
mesenteric lymph node 0.32% (1 of 312)
olfactory lobe 0.17% (1 of 579)
oral epithelium 0.0%
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vas deferens 4.45% (17 of 382)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 511)
heart ventricle 1.67% (1 of 60)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 511)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 506)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

MicroCT E9.5

Embryo reconstruction

3 Images

Adult LacZ

LacZ Images Wholemount

26 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right fundus

15 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Csk 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 Csk by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Familial Alzheimer-Like Prion Disease
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... ORPHA:280397
Choroidal Dystrophy, Central Areolar, 1
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy OMIM:215500
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Schizophrenia 19
Cognitive impairment, Bipolar affective disorder OMIM:617629
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression ORPHA:468726
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Frontotemporal Dementia
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Frontotemporal dementia, Dementia, Fro... OMIM:600274
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Pick Disease Of Brain
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Frontotemporal dementia, Irritability,... OMIM:172700
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... OMIM:193235
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Obsolete: Early-Onset Schizophrenia
Polyphagia, Emotional lability, Impairment in personality functioning, Suicidal ideation, Restles... ORPHA:96369
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Childhood Disintegrative Disorder
Impaired social interactions, Abnormal emotion/affect behavior, Motor deterioration, Anxiety, Pro... ORPHA:168782
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... OMIM:133780
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... OMIM:603075
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... ORPHA:891
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... OMIM:613194
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depression OMIM:619191
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation OMIM:179840
Huntington Disease-Like 1
Restlessness, Anxiety, Dementia, Aggressive behavior, Depression OMIM:603218
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Bone spicule pigmentation of the ret... OMIM:618697
Huntington Disease-Like 2
Subcortical dementia, Apathy, Anxiety, Dementia, Inertia, Memory impairment, Irritability, Depres... OMIM:606438
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Coloboma Of Macula
Macular coloboma OMIM:120300
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity, Anxiety, Abnormal social behavior, Aggressive behavior, ... ORPHA:101039
Eales Disease
Subhyaloid hemorrhage, Vitreous floaters, Rhegmatogenous retinal detachment, Epiretinal membrane,... ORPHA:40923
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Pandas
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... ORPHA:66624
Vitreoretinal Degeneration, Snowflake Type
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Impaired social interactions, Aggressive behavior, No social interaction ORPHA:329249
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Wildervanck Syndrome
Meningocele, Facial palsy, Lens subluxation, Congenital sensorineural hearing impairment, Pseudop... ORPHA:3456
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... OMIM:193220
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Fryns Microphthalmia Syndrome
Neural tube defect, Macrotia OMIM:600776
Neural Tube Defects, Susceptibility To
Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:182940
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Nevus Comedonicus Syndrome
Spina bifida occulta, Microcephaly, Spina bifida ORPHA:64754
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Humero-Radial Synostosis
Meningocele, Chorioretinal coloboma, Iris coloboma ORPHA:3265
Muscle-Eye-Brain Disease
Cataract, Hydrocephalus, Meningocele, Holoprosencephaly, Optic atrophy ORPHA:588
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Schisis Association
Encephalocele, Anencephaly, Microcephaly, Spina bifida ORPHA:63862
Subependymal Nodular Heterotopia
Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, Occipital encephalocele, ... ORPHA:101030
Vitamin K Antagonist Embryofetopathy
Cataract, Hydrocephalus, Myelomeningocele, Intrauterine growth retardation, Hearing impairment, O... ORPHA:1914
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Agitation, Disinhibition, Dementia, Memory impairment, Abnormal social behavior ORPHA:1020
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Young-Onset Parkinson Disease
Impaired social interactions, Apathy, Agitation, Cognitive impairment, Anxiety, Dementia, Frontal... ORPHA:2828
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum OMIM:207950
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Intrauterine growth retardation, Anencephaly, Microcep... OMIM:611134
Isolated Klippel-Feil Syndrome
Abnormal cranial nerve morphology, Hearing impairment, Spina bifida ORPHA:2345
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Spinal dysraphism, Low-set, posteriorly rotated ears, Hydrocephalus, Meningocele, ... ORPHA:1908
Alg3-Cdg
Cataract, Abnormal pinna morphology, Cardiomyopathy, Hearing impairment, Neural tube defect ORPHA:79321
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Iris coloboma, Spina bifida ORPHA:1104
Camptodactyly Syndrome, Guadalajara Type 1
Low-set, posteriorly rotated ears, Attached earlobe, Spina bifida, Intrauterine growth retardatio... ORPHA:1327
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Childhood Absence Epilepsy
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Low self esteem, Dep... ORPHA:64280
Craniorachischisis
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly ORPHA:63260
Dopa-Responsive Dystonia
Emotional lability, Agoraphobia, Anxiety, Abnormal social behavior, Irritability, Panic attack, D... ORPHA:255
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Triploidy
Cataract, Low-set, posteriorly rotated ears, Iris coloboma, Hydrocephalus, Meningocele, Holoprose... ORPHA:3376
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Intrauterine growth retardation, Anencephaly OMIM:603194
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Hsd10 Disease
Dysphagia, Abnormal social behavior ORPHA:391417
Joubert Syndrome 14
Encephalocele, Low-set ears, Hydrocephalus, Meningocele, Posteriorly rotated ears, Growth delay, ... OMIM:614424
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Hyperactivity, Shyness, Anxiety, Attention deficit hyperactivity di... ORPHA:449291
Waardenburg Syndrome Type 1
Spina bifida, Meningocele, Aganglionic megacolon, Hearing impairment, Congenital sensorineural he... ORPHA:894
Pelvis-Shoulder Dysplasia
Iris coloboma, Hydranencephaly, Hydrocephalus, Abnormal pinna morphology, Spina bifida, Mesomelic... ORPHA:2839
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Protruding ear, Meningocele, Short stature, Chorioretinal colo... ORPHA:2031
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage ORPHA:2481
Amish Lethal Microcephaly
Optic atrophy, Agenesis of corpus callosum, Spina bifida ORPHA:99742
Phaver Syndrome
Low-set ears, Conductive hearing impairment, Myelomeningocele, Posteriorly rotated ears, Intraute... ORPHA:2876
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Meningocele, Umbilical hernia, Intrauterine growth retardation... ORPHA:2311
Neu-Laxova Syndrome 2
Cataract, Low-set ears, Intrauterine growth retardation, Spina bifida OMIM:616038
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Czeizel-Losonci Syndrome
Low-set, posteriorly rotated ears, Prominent antitragus, Myelomeningocele, Hydrocephalus, Spina b... ORPHA:2437
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal helix morphology, Patent ductus arteriosus, Spina bifida ORPHA:1120
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Iris coloboma, Abnormality of the middle ear ossicle... ORPHA:2789
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Myelomeningocele, Meningocele, Hydranencephaly, Spina bifida, Atre... ORPHA:1393
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Fountain Syndrome
Short stature, Spina bifida occulta, Sensorineural hearing impairment, Spina bifida ORPHA:3219
Nail-Patella Syndrome
Cataract, Lester's sign, Spina bifida, Short stature, Microphakia, Keratoconus, Sensorineural hea... OMIM:161200
Obsolete: Arnold-Chiari Malformation Type Ii
Partial agenesis of the corpus callosum, Hydrocephalus, Meningocele, Myelomeningocele, Aqueductal... ORPHA:1136
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Abnormality of the middle ear ossicles, Hydrocephalu... OMIM:130720
Trisomy 18
Cataract, Low-set, posteriorly rotated ears, Cyclopia, Iris coloboma, Spina bifida, Holoprosencep... ORPHA:3380
Vacterl With Hydrocephalus
Microtia, third degree, Hydrocephalus, Spina bifida, Aqueductal stenosis, Intrauterine growth ret... ORPHA:3412
Lathosterolosis
Cataract, Meningocele, Intrauterine growth retardation, Hearing impairment, Opacification of the ... ORPHA:46059
Sacral Defect With Anterior Meningocele
Hydrocephalus, Meningocele, Myelomeningocele, Myeloschisis, Dermal sinus tract OMIM:600145
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Dementia, Abnormal social behavior, Memory impairment, Progressive psychomoto... ORPHA:309271
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Agenesis of corpus callosum ORPHA:1827
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Self-mutilation, Shyness, Self-injurious behavior, Aggressive behavior ORPHA:293948
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal social behavior ORPHA:530983
Waardenburg Syndrome, Type 1
Blue irides, Myelomeningocele, Spina bifida, Hypoplastic iris stroma, Congenital sensorineural he... OMIM:193500
Iniencephaly
Encephalocele, Spinal dysraphism, Low-set ears, Myelomeningocele, Spina bifida, Hydrocephalus, Rh... ORPHA:63259
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal optic disc morphology, Colpocephaly, Low-set, posteriorly rotated ears, Low-set ears, Me... ORPHA:397715
Focal Dermal Hypoplasia
Low-set ears, Ectopia lentis, Iris coloboma, Spina bifida, Umbilical hernia, Hearing impairment, ... ORPHA:2092
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Spina bifida ORPHA:2874
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Retinal cotton wool spot, Retinal neovascularization, Macul... ORPHA:247691
Mosaic Trisomy 9
Low-set ears, Spina bifida, Intrauterine growth retardation, Corneal opacity, Patent ductus arter... ORPHA:99776
Trisomy 20P
Low-set, posteriorly rotated ears, Protruding ear, Spina bifida, Umbilical hernia, Abnormal antih... ORPHA:261318
Curry-Jones Syndrome
Occipital meningocele, Agenesis of corpus callosum, Iris coloboma, Lipomyelomeningocele OMIM:601707
Knobloch Syndrome 1
Peripapillary atrophy, Cortical cataract, Occipital encephalocele, Optic disc pallor, Band kerato... OMIM:267750
Pagod Syndrome
Encephalocele, Spina bifida, Meningocele, Arrhythmia, Sudden cardiac death, Microcephaly ORPHA:991
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration ORPHA:309263
48,Xxxy Syndrome
Anxiety, Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent beha... ORPHA:96263
Limb Body Wall Complex
Encephalocele, Short umbilical cord, Iris coloboma, Myelomeningocele, Spina bifida, Hydrocephalus... ORPHA:2369
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Microcephaly, Hydrocephalus, Spina bifida OMIM:613776
Neu-Laxova Syndrome 1
Cataract, Short umbilical cord, Low-set ears, Hydranencephaly, Spina bifida, Intrauterine growth ... OMIM:256520
Neu-Laxova Syndrome
Cataract, Spina bifida, Intrauterine growth retardation, Macrotia, Pterygium ORPHA:2671
Hallermann-Streiff Syndrome
Cataract, Low-set ears, Iris coloboma, Spina bifida, Chorioretinal coloboma, Optic disc coloboma,... OMIM:234100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal optic disc morphology, Iris coloboma, Spina bifida, Short stature, Optic nerve hypoplasi... ORPHA:508498
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Low-set ears, Partial agenesis of the corpus callosum, Spina bifida, Posteriorly rotated ears, Un... OMIM:619480
Aicardi Syndrome
Cataract, Partial agenesis of the corpus callosum, Spina bifida, Optic atrophy, Lateral ventricle... OMIM:304050
Jacobsen Syndrome
Cataract, Low-set, posteriorly rotated ears, Iris coloboma, Spina bifida, Intrauterine growth ret... ORPHA:2308
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Nuclear cataract, Unilateral deafness ORPHA:1010
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Hydrocephalus, Anencephaly, Occipital meningocele, Retinal coloboma OMIM:616546
22Q11.2 Deletion Syndrome
Cataract, Low-set ears, Occipital myelomeningocele, Conductive hearing impairment, Spina bifida, ... ORPHA:567
Niemann-Pick Disease Type C
Apathy, Disinhibition, Cognitive impairment, Bipolar affective disorder, Progressive neurologic d... ORPHA:646
Orofaciodigital Syndrome Vi
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Short stature, Occipital m... OMIM:277170
Phocomelia, Schinzel Type
Meningocele, Intrauterine growth retardation, Protruding ear, Disproportionate short stature ORPHA:2879
Basal Cell Nevus Syndrome 1
Cataract, Iris coloboma, Hydrocephalus, Spina bifida OMIM:109400
Holoprosencephaly 7
Iris coloboma, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprosencephaly, S... OMIM:610828
Fibular Hemimelia
Abnormal anterior chamber morphology, Spina bifida ORPHA:93323
Fanconi Anemia
Cataract, External ear malformation, Hydrocephalus, Spina bifida, Umbilical hernia, Astigmatism, ... ORPHA:84
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Semilobar Holoprosencephaly
Cyclopia, Hydrocephalus, Short stature, Abnormal heart morphology, Sensorineural hearing impairme... ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Hydrocephalus, Short stature, Abnormal heart morphology, Sensorineural hearing impairme... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Hydrocephalus, Short stature, Abnormal heart morphology, Sensorineural hearing impairme... ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Hydrocephalus, Short stature, Abnormal heart morphology, Sensorineural hearing impairme... ORPHA:93924
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Neurofibromatosis, Type I
Aqueductal stenosis, Hypertension, Hydrocephalus, Spina bifida OMIM:162200
Prader-Willi Syndrome Due To Translocation
Head-banging, Impaired social interactions, Anxiety, Attention deficit hyperactivity disorder, Ab... ORPHA:177907
Marfan Syndrome
Ectopia lentis, Meningocele, Lens luxation, Hypoplasia of the iris, Lens subluxation, Flat cornea ORPHA:558
Koolen-De Vries Syndrome Due To A Point Mutation
Protruding ear, Hydrocephalus, Spina bifida, Hearing impairment, Macrotia, Developmental cataract... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Protruding ear, Hydrocephalus, Spina bifida, Hearing impairment, Macrotia, Developmental cataract... ORPHA:363958
Thrombocytopenia-Absent Radius Syndrome
Cataract, Spina bifida, Short stature, Corneal opacity, Patent ductus arteriosus OMIM:274000
Arima Syndrome
Occipital meningocele, Optic atrophy, Chorioretinal coloboma, Growth delay OMIM:243910
Tuberous Sclerosis Complex
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Self-... ORPHA:805
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
Rubinstein-Taybi Syndrome 1
Cataract, Low-set ears, Spina bifida, Short stature, Hearing impairment, Spina bifida occulta, Si... OMIM:180849
Vater/Vacterl Association
Spina bifida, Patent urachus, Occipital encephalocele, Intrauterine growth retardation, Patent du... OMIM:192350
Campomelic Dysplasia
Spinal dysraphism, Low-set ears, Conductive hearing impairment, Hydrocephalus, Spina bifida, Hear... OMIM:114290
Split Cord Malformation
Cervical spina bifida, Hydrocephalus, Meningocele, Myelomeningocele, Lipomyelomeningocele ORPHA:573278
Otopalatodigital Syndrome, Type Ii
Cataract, Low-set ears, Conductive hearing impairment, Hydrocephalus, Spina bifida, Umbilical her... OMIM:304120
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Aggressive behavior, Memory impairment ORPHA:314647
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Irritability, Abnormal social behavior ORPHA:1675
Mend Syndrome
Aggressive behavior, Hyperactivity, Abnormal social behavior ORPHA:401973
Exstrophy-Epispadias Complex
Microcephaly, Hydrocephalus, Spina bifida ORPHA:322
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Low-set ears, Abnormal pinna morphology, Occipital meningocele, Disproportionate short stature, L... OMIM:276820
Williams Syndrome
Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, De... ORPHA:904

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 Csk

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 Csk.

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

Order Mouse and ES Cells

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
Csktm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Csktm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Csktm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Csktm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Csktm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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