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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 kidney weight Caskin2tm1.1(KOMP)Vlcg HOM Early adult 3.68×10-06
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

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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 Skull Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

43 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

11 Images

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X-ray

XRay Images Whole Body Lateral 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
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... 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
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormality of the urinary system, Ab... ORPHA:2204
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness 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
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, Osteopetrosis... OMIM:620366
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly, Osteopetrosis OMIM:611490
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Schnitzler Syndrome
Splenomegaly, Arthritis, Increased bone mineral density, Hepatomegaly ORPHA:37748
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Oste... OMIM:259700
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... OMIM:608022
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Glomerulopathy, Proteinuria, Splenom... ORPHA:77297
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Increased urina... ORPHA:85188
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Oligosacchariduria, Abnormal bone ... ORPHA:163649
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... OMIM:239000
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Proteinuria, Splenomegaly, Osteoarthrit... ORPHA:77259
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Osteopetrosis OMIM:615085
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclerosi... OMIM:232200
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Mac... ORPHA:251004
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glo... OMIM:232220
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hepatomegaly, Osteopetrosis, Splenomegaly OMIM:618541
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Nephrotic syndrome, Focal segmental... OMIM:617303
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density ORPHA:36913
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... ORPHA:289176
12Q14 Microdeletion Syndrome
Osteopoikilosis, Renal hypoplasia, Horseshoe kidney, Ectopic kidney ORPHA:94063
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... OMIM:259900
Hyperparathyroidism, Transient Neonatal
Osteopenia, Recurrent fractures, Unilateral renal agenesis, Subperiosteal bone formation, Fractur... OMIM:618188
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Hepatomegaly, Osteopetrosis, Hepatosplenomegaly OMIM:612840
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Desmosterolosis
Increased bone mineral density, Renal agenesis, Renal hypoplasia/aplasia, Splenomegaly, Osteopetr... ORPHA:35107
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Werner Syndrome
Renal neoplasm, Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Primary Hyperoxaluria
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos... ORPHA:416
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Kaposiform Lymphangiomatosis
Splenomegaly, Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Multiple renal cysts, ... ORPHA:464329
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cranial hyperostosis, Hepatosplenomeg... OMIM:259720
H Syndrome
Abnormality of the kidney, Recurrent fractures, Osteolysis, Hepatosplenomegaly, Camptodactyly, Mi... ORPHA:168569
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Osteopetrosis, Distal renal tubul... OMIM:259730
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Hypospadias, Camptodactyly of finger, Tarsal synostosis, Hydronep... ORPHA:90652
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... ORPHA:94089
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Craniosynostosis OMIM:200995
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... OMIM:208540
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatomegaly, Proteinuria, Osteoporosis, Stage 5 chronic kidney disease, Gout, Increa... ORPHA:79259
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Increased bone mineral density, Hypospadias, Epispadias, Cranial hyper... ORPHA:2658
Camurati-Engelmann Disease
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... OMIM:131300
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Erdheim-Chester Disease
Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria, Osteolysis, Hydronep... ORPHA:35687
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hepatomegaly, Craniosynostosis, Cardiomegaly, Splenomegaly, Limitation of joint mobil... OMIM:252500
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney, Rheumatoid arthritis ORPHA:79128
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Flexion contracture, Hepatosple... ORPHA:505248
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Proteinuria, Splenomegaly, Osteolysis, Increased su... ORPHA:77261
Poems Syndrome
Sclerosis of hand bone, Visceromegaly, Sclerosis of skull base, Sclerosis of foot bone ORPHA:2905
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Raine Syndrome
Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Arthrogryposis multipl... OMIM:259775
Gaucher Disease
Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurrent f... ORPHA:355
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal bone ossification, Abnorma... ORPHA:79328
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis ORPHA:33364
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis interna, Low... ORPHA:79443
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Patchy osteosclerosis OMIM:241410
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density, Low urinary cyclic AMP response to PTH admi... ORPHA:79444
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Camptodactyly, Nephroblastoma, Bifid ureter, Enl... ORPHA:500095
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... ORPHA:731
Williams Syndrome
Osteopenia, Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalc... ORPHA:904
Sanjad-Sakati Syndrome
Hypoplasia of penis, Patchy osteosclerosis ORPHA:2323
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... ORPHA:116
Atypical Werner Syndrome
Sclerosis of hand bone, Renal neoplasm, Increased bone mineral density, Limitation of joint mobil... ORPHA:79474
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones OMIM:127000
Helsmoortel-Van Der Aa Syndrome
Joint laxity, Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna OMIM:615873
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Desmosterolosis
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita OMIM:602398
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Block vertebrae, Cardiomegaly, Horseshoe kidney, Enlarged kidney OMIM:306955
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Ogden Syndrome
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly OMIM:300855
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Hepatomegaly OMIM:612301
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney ORPHA:508
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Recurrent fractures, Proximal renal tubular acidosis, Nephrolithiasis, Renal tubula... ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Increased density of long bones, Hypospadias, Hydroureter, Hydronephrosis, Scl... OMIM:269150
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, ... ORPHA:667
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Two carpal ossi... OMIM:312870
Cardiac-Urogenital Syndrome
Enlarged kidney, Patent urachus, Tracheomalacia, Micropenis, Penoscrotal hypospadias OMIM:618280
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... 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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