Gene Summary

Name:
islet cell autoantigen 1
Synonyms:
69kDa,  ICA69

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
abnormal cecum morphology Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged kidney Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged cecum Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal eye morphology Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal spleen morphology Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased locomotor activity Ica1tm1b(EUCOMM)Wtsi HOM Early adult 2.36×10-07
abnormal kidney morphology Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
small spleen Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (1 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote 100% (1 of 1)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 100% (1 of 1)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (1 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Duodenum N/A heterozygote 0.0% (0 of 1)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 100% (1 of 1)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 1)
Jejunum N/A heterozygote 0.0% (0 of 1)
Kidney N/A heterozygote 100% (1 of 1)
Large intestine N/A heterozygote 100% (1 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 1)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 1)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 100% (1 of 1)
Olfactory lobe N/A heterozygote 100% (1 of 1)
Ovary N/A heterozygote 0.0% (0 of 1)
Oviduct N/A heterozygote 0.0% (0 of 1)
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 100% (1 of 1)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 1)
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 100% (1 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (1 of 1)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 100% (1 of 1)
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 100% (1 of 1)
Trigeminal V nerve N/A heterozygote 100% (1 of 1)
Urinary bladder N/A heterozygote 100% (1 of 1)
Uterus N/A heterozygote 0.0% (0 of 1)
Vagina N/A heterozygote 0.0% (0 of 1)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland 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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

30 Images

Human diseases caused by Ica1 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 Ica1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... OMIM:619902
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmuni... ORPHA:411593
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Autoimmunity, Diabetes mellitus OMIM:612227
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... OMIM:614420
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Renal... OMIM:208540
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... OMIM:601859
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Cleft palate, Hyperechogenic kidneys OMIM:613885
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... OMIM:200995
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Macroglossia, Inabili... OMIM:617303
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-... OMIM:618534
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Tracheoesophageal fistula, Urethral atresia, Esophageal atresia, Anal atresia, En... OMIM:314390
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha... ORPHA:464329
Tyrosinemia, Type I
Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Renal insu... OMIM:276700
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Renal dysplasia, Renal insufficiency, Lipid accumulation in hepatocytes, Hydroneph... OMIM:608836
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Autoi... OMIM:240500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... OMIM:603909
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Cystic renal dysplasia, Enlarged kidney,... OMIM:608022
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Anti-glutamic acid decarb... OMIM:616329
Type 1 Diabetes Mellitus
Hyperglycemia, Autoimmunity, Diabetes mellitus OMIM:222100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Lack ... ORPHA:277
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ... OMIM:619350
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Hamartoma of tongue, Intestinal malrotation, Bifid tongue, Micropenis, Anal atre... OMIM:613091
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Anti-glutamic acid decarboxylase antibody po... OMIM:610582
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Tubu... ORPHA:449395
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Macroglossia, Inability to walk, Heparan sulfate excretion in urine,... ORPHA:505248
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Inflammation of the large intestine, Ulc... ORPHA:79259
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Unilateral renal agenesis, Gastroesophageal reflux, Enlarged kidney OMIM:618188
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem... ORPHA:251004
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased T cell activation, Decreased CD69 upregulation upon TCR ac... OMIM:300853
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Neutr... OMIM:607594
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Abnormality of the kidney, Micropenis, Hi... ORPHA:168569
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Colonic diverticula, Renal insufficiency, Hepatic cysts OMIM:173900
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Polysplenia, Abdominal situs inversus, Horseshoe kidney, Duodenal atresia, Poster... OMIM:306955
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Bullous Pemphigoid
Autoimmunity, Diabetes mellitus, Anti-BP230 antibody positivity, Anti-BP180 antibody positivity ORPHA:703
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia ORPHA:89844
Gracile Bone Dysplasia
Micropenis, Asplenia, Ankyloglossia, Hypoplastic spleen OMIM:602361
Alg9-Cdg
Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Hypoplasia of the bladder, Villous atr... ORPHA:79328
Mirage Syndrome
Gastroesophageal reflux, Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopeni... OMIM:617053
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Beckwith-Wiedemann Syndrome
Nephropathy, Macroglossia, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pa... ORPHA:116
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma, Abnormality of the lymphatic system ORPHA:276280
Mucolipidosis Ii Alpha/Beta
Tip-toe gait, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Macroglossia, Enla... OMIM:252500
Immunodeficiency 81
Autoimmune hemolytic anemia, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell prol... OMIM:619374
Stormorken Syndrome
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Endocrine-Cerebroosteodysplasia
Microphallus, Hyperechogenic kidneys, Median cleft palate, Hypospadias, Enlarged kidney OMIM:612651
Leprechaunism
Megarectum, Nephrocalcinosis, Long penis, Rectal prolapse, Hypercalciuria, Enlarged ovaries, Hepa... ORPHA:508
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Cardiac-Urogenital Syndrome
Accessory spleen, Intestinal malrotation, Hepatopulmonary fusion, Penoscrotal hypospadias, Microp... OMIM:618280
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Lack of T cell function, Panhypogammag... ORPHA:572
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Meacham Syndrome
Horseshoe kidney, Enlarged kidney, Accessory spleen OMIM:608978
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Macroglossia, ... ORPHA:500095
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Pemphigus Erythematosus
Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria, Insu... ORPHA:2298
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Ataxia, Hepatomegaly, Dysphagia, Hypoplastic spleen... ORPHA:699
Ogden Syndrome
Narrow palate, Polycythemia, Microvesicular hepatic steatosis, Cardiomegaly, Global glomeruloscle... OMIM:300855
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Exaggerated median tongue furrow, Duplication of renal pelvis, Polysplenia, Meckel... OMIM:312870
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Hydronephrosis, Hypoplastic spleen, Pe... OMIM:601186
Ciliary Dyskinesia, Primary, 53
Cardiomegaly, Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, High, narrow palate, Gastroesophageal reflux, Recurrent urinary tract infectio... OMIM:615873
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Macroglossia, Enlarged kidney OMIM:261740
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reti... ORPHA:90038
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:66628
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Abnormality ... OMIM:613179
Systemic Sclerosis
Chronic kidney disease, Barrett esophagus, Acute kidney injury, Intestinal bleeding, Gastroesopha... ORPHA:90291
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:179494
Proteus Syndrome
Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries... ORPHA:744
Fg Syndrome Type 1
Broad-based gait, Gastroesophageal reflux, Abnormal large intestine morphology, High palate, Anal... ORPHA:93932
Schimke Immuno-Osseous Dysplasia
Abnormal lymphocyte physiology, Bone marrow hypocellularity, Autoimmunity, Impaired T cell function ORPHA:1830
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons... OMIM:600802
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Autoimmunity, Oligoclonal T cell expan... ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... ORPHA:35078
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... OMIM:301000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Orotic Aciduria
Impaired T cell function OMIM:258900
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Narrow palate, Abnormal large intestine morphology, Hamartomatous polyposis ORPHA:109
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Immunodeficiency 58
Decreased T cell activation, Decreased circulating antibody level, Decreased specific antibody re... OMIM:618131
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Diabetes mellitus ORPHA:2237
Vici Syndrome
Decreased circulating IgG level, Decreased T cell activation, Cutaneous anergy, Decreased circula... OMIM:242840
Progeroid Short Stature With Pigmented Nevi
Diabetes mellitus, Impaired T cell function OMIM:176690
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
22Q11.2 Deletion Syndrome
Autoimmunity, Impaired T cell function ORPHA:567
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Digeorge Syndrome
Impaired T cell function OMIM:188400

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 Ica1

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 Ica1.

No publications found that use IMPC mice or data for Ica1.

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
Ica1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ica1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ica1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ica1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ica1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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