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Gene: Caskin2 MGI:2157062

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Gene Summary

Name:
CASK-interacting protein 2
Synonyms:
1600028L06Rik

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
increased bone mineral density Caskin2tm1.1(KOMP)Vlcg HOM Early adult 2.56×10-08
decreased prepulse inhibition Caskin2tm1.1(KOMP)Vlcg HOM Early adult 3.42×10-05
increased kidney weight Caskin2tm1.1(KOMP)Vlcg HOM Early adult 3.68×10-06

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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  Section images heterozygote 100% (3 of 3)
Aorta  Wholemount images  Section images heterozygote 100% (3 of 3)
Brain  Wholemount images heterozygote 100% (3 of 3)
Brown adipose tissue  Section images heterozygote 66.67% (2 of 3)
Cecum  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Cerebellum  Wholemount images  Section images heterozygote 100% (3 of 3)
Colon  Wholemount images  Section images heterozygote 100% (3 of 3)
Diaphragm  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Duodenum  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Epididymis  Section images heterozygote 33.33% (1 of 3)
Esophagus  Wholemount images  Section images heterozygote 100% (3 of 3)
Eye  Section images heterozygote 33.33% (1 of 3)
Gall bladder  Wholemount images heterozygote 33.33% (1 of 3)
Gonadal fat pad  Wholemount images heterozygote 33.33% (1 of 3)
Harderian gland  Section images heterozygote 66.67% (2 of 3)
Ileum  Wholemount images  Section images heterozygote 100% (3 of 3)
Jejunum  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Kidney  Wholemount images  Section images heterozygote 100% (3 of 3)
Liver  Section images heterozygote 66.67% (2 of 3)
Lung  Wholemount images  Section images heterozygote 100% (3 of 3)
Mammary gland  Section images heterozygote 33.33% (1 of 3)
Mesenteric adipose tissue  Wholemount images heterozygote 33.33% (1 of 3)
Mesenteric lymph node  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Midbrain  Wholemount images  Section images heterozygote 100% (3 of 3)
Olfactory lobe  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Ovary  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Oviduct  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Pancreas  Wholemount images  Section images heterozygote 100% (3 of 3)
Parotid gland  Section images heterozygote 66.67% (2 of 3)
Pituitary gland  Section images heterozygote 66.67% (2 of 3)
Prostate gland  Section images heterozygote 33.33% (1 of 3)
Quadriceps  Section images heterozygote 66.67% (2 of 3)
Sciatic nerve  Section images heterozygote 33.33% (1 of 3)
Skin  Wholemount images  Section images heterozygote 100% (3 of 3)
Spinal cord  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Spleen  Wholemount images  Section images heterozygote 100% (3 of 3)
Stomach  Wholemount images  Section images heterozygote 100% (3 of 3)
Sublingual gland  Section images heterozygote 33.33% (1 of 3)
Submandibular gland  Section images heterozygote 66.67% (2 of 3)
Testis  Section images heterozygote 33.33% (1 of 3)
Thymus  Wholemount images  Section images heterozygote 100% (3 of 3)
Thyroid gland  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Tongue  Wholemount images  Section images heterozygote 100% (3 of 3)
Trachea  Wholemount images  Section images heterozygote 100% (3 of 3)
Trigeminal V nerve  Section images heterozygote 33.33% (1 of 3)
Urinary bladder  Wholemount images  Section images heterozygote 100% (3 of 3)
Uterus  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Vagina  Section images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 33.33% (1 of 3)
Vesicular gland  Section images heterozygote 33.33% (1 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (3 of 3)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (3 of 3)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

198 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

43 Images

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X-ray

XRay Images Forepaw

11 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Human diseases caused by Caskin2 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 Caskin2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Isolated Osteopoikilosis
Abnormality of the kidney, Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic fo... ORPHA:166119
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly, Ab... ORPHA:2204
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... OMIM:136300
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Renal cyst OMIM:109130
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Mueller-Weiss Syndrome
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... ORPHA:566943
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Ectopic ossification in... ORPHA:2485
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Intermediate Osteopetrosis
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplenomegaly,... ORPHA:210110
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Osteopetrosis, Increased bone mineral density, Cortical sclerosis... OMIM:620366
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses OMIM:166740
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... OMIM:619902
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... OMIM:166600
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Recurrent fractures OMIM:611490
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... OMIM:144750
Schnitzler Syndrome
Increased bone mineral density, Arthritis, Hepatomegaly, Splenomegaly ORPHA:37748
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Hepatomegaly, Calvarial osteosclerosis, Increased bone mineral den... OMIM:259700
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Tracheomalacia, Nephroblastomatosis, Absent in... OMIM:608022
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Increased bone mineral density, Synovitis, Microscopic hematuria, F... ORPHA:77297
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Osteogenesis Imperfecta, Type Xiii
Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Enures... OMIM:614856
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... OMIM:263200
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... ORPHA:85188
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Oligosacchariduria, Delayed patellar ... ORPHA:163649
Diastrophic Dysplasia
Joint stiffness, Joint hypermobility, Camptodactyly of finger, Increased bone mineral density ORPHA:628
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Localized osteoporosis, Stiff knee, Hip osteoarthritis, Increased bone mi... ORPHA:93284
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl... OMIM:259710
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Hypercalciuria, Increased urine deoxypyridinoline lev... OMIM:239000
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Albers-Schönberg Osteopetrosis
Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibular osteomyeli... ORPHA:53
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Low urinary cyclic AMP response to PTH administration, Increased ... ORPHA:94089
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:615085
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Osteoporosi... OMIM:232200
Dysosteosclerosis
Increased bone mineral density, Coarse metaphyseal trabecularization, Recurrent fractures, Cranio... ORPHA:1782
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis OMIM:616943
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Cr... ORPHA:251004
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Renal phosphate wasting, ... ORPHA:289176
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... OMIM:608836
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:618541
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Osteoporosi... OMIM:232220
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis,... OMIM:617303
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Autoimmune Hypoparathyroidism
Increased bone mineral density, Calcium nephrolithiasis ORPHA:36913
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
12Q14 Microdeletion Syndrome
Renal hypoplasia, Ectopic kidney, Horseshoe kidney, Osteopoikilosis ORPHA:94063
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Thin bony cortex, Osteopenia ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... OMIM:112250
Hyperoxaluria, Primary, Type I
Hematuria, Calcium oxalate nephrolithiasis, Increased bone mineral density, Hyperoxaluria, Nephro... OMIM:259900
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Hyperparathyroidism, Transient Neonatal
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Fractured r... OMIM:618188
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612840
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Pycnodysostosis
Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal... ORPHA:763
Desmosterolosis
Osteopetrosis, Renal hypoplasia/aplasia, Increased bone mineral density, Renal agenesis, Splenome... ORPHA:35107
Werner Syndrome
Joint stiffness, Renal neoplasm, Osteoporosis, Increased bone mineral density ORPHA:902
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:615415
Primary Hyperoxaluria
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Nephrocalcin... ORPHA:416
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Kaposiform Lymphangiomatosis
Enlarged kidney, Fractures of the long bones, Hepatosplenomegaly, Multiple renal cysts, Splenomeg... ORPHA:464329
Dysosteosclerosis
Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap... OMIM:224300
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Increased bone mineral density, Decreased oste... OMIM:259720
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Hepatosplenomegaly, Distal renal tubul... OMIM:259730
H Syndrome
Abnormality of the kidney, Enlarged kidney, Camptodactyly, Hepatosplenomegaly, Micropenis, Recurr... ORPHA:168569
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Hypospadias, Increased bone mineral density, Synostosis of carpal bones, Campt... ORPHA:90652
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Hepatomega... OMIM:276700
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:200995
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Osteopor... ORPHA:79259
Erdheim-Chester Disease
Increased bone mineral density, Dysuria, Hydronephrosis, Osteolysis, Renal insufficiency, Osteomy... ORPHA:35687
Poems Syndrome
Hepatomegaly, Visceromegaly, Sclerosis of hand bone, Sclerosis of foot bone, Splenomegaly, Sclero... ORPHA:2905
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Hypospadias, ... ORPHA:2658
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal... OMIM:208540
Mucolipidosis Ii Alpha/Beta
Osteopenia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Limitation of joint mobility, Camptodact... OMIM:252500
Camurati-Engelmann Disease
Increased bone mineral density, Cortical thickening of long bone diaphyses, Sclerosis of skull ba... OMIM:131300
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Enlarged kidney, Hepatomegaly ORPHA:79128
Schwartz-Jampel Syndrome
Flexion contracture of toe, Shoulder flexion contracture, Increased bone mineral density, Wrist f... ORPHA:800
Raine Syndrome
Subperiosteal bone formation, Hydroureter, Increased bone mineral density, Hydronephrosis, Arthro... OMIM:259775
Gaucher Disease Type 3
Hepatomegaly, Hematuria, Increased bone mineral density, Splenomegaly, Proteinuria, Osteolysis, I... ORPHA:77261
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Joint stiffness, Nephrotic syndrome, Hepatosplenomegaly, Flexion contracture, Pr... ORPHA:505248
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis OMIM:618476
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Renal phosphate wasting, Hypocalci... ORPHA:89936
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Alg9-Cdg
Abnormal bone ossification, Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Uret... ORPHA:79328
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... OMIM:130650
Trichothiodystrophy
Increased bone mineral density, Craniosynostosis, Multiple joint contractures, Osteopenia ORPHA:33364
Gaucher Disease
Osteopenia, Hepatomegaly, Hematuria, Increased bone mineral density, Abnormal bone structure, Joi... ORPHA:355
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Patchy osteosclerosis OMIM:241410
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Low urinary cyclic AMP response to PTH administration, Increased bo... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Low urinary cyclic AMP response to PTH administration, Ectopic os... ORPHA:79444
Williams Syndrome
Hypoplasia of penis, Joint stiffness, Nephrocalcinosis, Multiple renal cysts, Urethral stenosis, ... ORPHA:904
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Camptodactyly, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidn... ORPHA:500095
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones OMIM:127000
Sanjad-Sakati Syndrome
Hypoplasia of penis, Patchy osteosclerosis ORPHA:2323
Atypical Werner Syndrome
Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Renal neoplasm, In... ORPHA:79474
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly OMIM:612301
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic... ORPHA:116
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Helsmoortel-Van Der Aa Syndrome
Joint hypermobility, Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna OMIM:615873
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Renal agenesis, Block vertebrae, Cardiomegaly, Horseshoe kidney OMIM:306955
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Ogden Syndrome
Cardiomegaly, Polycystic kidney dysplasia, Enlarged kidney, Global glomerulosclerosis OMIM:300855
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones OMIM:620558
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries ORPHA:508
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Hepatomegaly, Renal tubular acidosis, Nephrolithiasis, Hydronephrosis, Proximal re... ORPHA:2785
Proteus Syndrome
Cranial hyperostosis, Enlarged kidney, Long penis, Hyperostosis, Calvarial hyperostosis, Enlarged... ORPHA:744
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Hypospadias, Ureteral stenosis, Hydronephrosis, Thickened cortex of long bones, Scle... OMIM:269150
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Hepatomegaly, Splenomegaly, Craniosynostosis, Recurr... ORPHA:667
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Tracheomalacia, Patent urachus, Micropenis OMIM:618280
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Two carpal ossification centers present a... OMIM:312870
Sclerosteosis 1
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... OMIM:269500

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.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological entity term cataract; capsular-epithelial Caskin2tm1.1(KOMP)Vlcg HOM Early adult
Eye - MPATH pathological entity term cataract; nuclear and cortical Caskin2tm1.1(KOMP)Vlcg HOM Early adult

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 Caskin2.

No publications found that use IMPC mice or data for Caskin2.

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
Caskin2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Caskin2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Caskin2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Caskin2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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