Gene Summary

Name:
capping protein inhibiting regulator of actin like
Synonyms:
2010300C02Rik

IMPC Data Collections

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
decreased circulating total protein level Cracdltm1b(KOMP)Wtsi HOM Early adult 4.33×10-05
decreased circulating serum albumin level Cracdltm1b(KOMP)Wtsi HOM Early adult 5.17×10-05
decreased circulating HDL cholesterol level Cracdltm1b(KOMP)Wtsi HOM Early adult 6.01×10-06
decreased circulating calcium level Cracdltm1b(KOMP)Wtsi HOM Early adult 4.50×10-05
decreased circulating cholesterol level Cracdltm1b(KOMP)Wtsi HOM Early adult 8.92×10-07

Download data as:  TSV  XLS

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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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Ambiguous
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote Ambiguous
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Ambiguous
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote Ambiguous
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
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.

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Legacy Phenotype Associated Images

View all 68 images

Human diseases caused by Cracdl 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 Cracdl by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Omenn Syndrome
Hypoproteinemia OMIM:603554
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Dengue Fever
Hypoproteinemia ORPHA:99828
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... ORPHA:26793
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Steatorrhea, Hypoalbuminemia ORPHA:2070
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Timothy Syndrome
Hypocalcemia OMIM:601005
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Increased circulating farnesol conc... OMIM:618156
Leishmaniasis
Hypoalbuminemia ORPHA:507
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Pierson Syndrome
Hypoproteinemia OMIM:609049
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia OMIM:607765
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Chédiak-Higashi Syndrome
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia ORPHA:167
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Wolcott-Rallison Syndrome
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia ORPHA:1667
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia ORPHA:73224
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Decreased LDL cholesterol concentration, Hypo... ORPHA:96180
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating apolipoprotein... ORPHA:14
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... ORPHA:90363
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Hypophosphatasia
Hypercalcemia ORPHA:436
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia ORPHA:428
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Abnormal blood ion con... ORPHA:37042
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... ORPHA:89842
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79444
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Celiac Disease, Susceptibility To, 1
Steatorrhea, Hypocalcemia OMIM:212750
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79443
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Hypotrig... ORPHA:2298
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Hypophosphatasia, Infantile
Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Hypophosphatemia OMIM:239200
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Pearson Syndrome
Hypokalemia, Hypophosphatemia, Hyperalaninemia, Hypomagnesemia, Steatorrhea, Hypocalcemia ORPHA:699
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Gitelman Syndrome
Primary hyperaldosteronism, Hypokalemia, Hypomagnesemia, Hypocalcemia, Hypermagnesemia ORPHA:358
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Hypocalcemia ORPHA:544482
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level, Decr... ORPHA:95409
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hypocalcemia ORPHA:280651
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Decreased circulating cortisol level, Hyperuricemia ORPHA:199299
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Pheochromocytoma
Hypercalcemia OMIM:171300
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Mastocytosis
Hypercalcemia ORPHA:98292
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level, Decr... ORPHA:85138
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Fibrous Dysplasia Of Bone
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia ORPHA:249
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol OMIM:270400
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... OMIM:619534
Digeorge Syndrome
Hypocalcemia OMIM:188400
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99880
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:143
Vipoma
Hypercalcemia, Increased circulating cortisol level, Hypokalemia ORPHA:97282
Somatostatinoma
Hypercalcemia, Increased circulating cortisol level, Steatorrhea ORPHA:97283
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Leptospirosis
Hyperproteinemia ORPHA:509
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Hypocalcemia OMIM:619503
Glucagonoma
Hypercalcemia, Increased circulating cortisol level, Steatorrhea ORPHA:97280
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level ORPHA:913
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Hypocalcemia OMIM:243800
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Charge Syndrome
Hypocalcemia OMIM:214800
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia ORPHA:437
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Increased circulating cortisol level, Primary hypercortisolism ORPHA:652
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... ORPHA:904
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia ORPHA:79318
Sarcoidosis
Hypercalcemia ORPHA:797
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Sotos Syndrome
Hypercalcemia ORPHA:821

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 Cracdl

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 Cracdl.

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

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MGI Allele Allele Type Produced
Cracdltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cracdltm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Cracdltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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