Gene: Cyp2ab1 MGI:3644957

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Gene Summary

Name:
cytochrome P450, family 2, subfamily ab, polypeptide 1
Synonyms:
EG224044

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 spleen morphology Cyp2ab1tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased circulating phosphate level Cyp2ab1tm1b(KOMP)Wtsi HOM Early adult 1.71×10-05
decreased circulating aspartate transaminase level Cyp2ab1tm1b(KOMP)Wtsi HOM Early adult 1.65×10-06

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
Prostate gland  Wholemount images heterozygote 25% (2 of 8)
Testis  Wholemount images heterozygote 37.5% (3 of 8)
Thyroid gland  Wholemount images heterozygote 0.0% (0 of 8)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 8)
Aorta N/A heterozygote 0.0% (0 of 8)
Bone N/A heterozygote 0.0% (0 of 8)
Brain N/A heterozygote 0.0% (0 of 8)
Brainstem N/A heterozygote 0.0% (0 of 8)
Brown adipose tissue N/A heterozygote 0.0% (0 of 8)
Cartilage tissue N/A heterozygote 0.0% (0 of 8)
Cecum N/A heterozygote 0.0% (0 of 7)
Cerebellum N/A heterozygote 0.0% (0 of 8)
Cerebral cortex N/A heterozygote 0.0% (0 of 8)
Esophagus N/A heterozygote 0.0% (0 of 8)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 8)
Heart N/A heterozygote 0.0% (0 of 8)
Hippocampus N/A heterozygote 0.0% (0 of 8)
Hypothalamus N/A heterozygote 0.0% (0 of 8)
Kidney N/A heterozygote 0.0% (0 of 8)
Large intestine N/A heterozygote 0.0% (0 of 8)
Liver N/A heterozygote 0.0% (0 of 8)
Lower urinary tract N/A heterozygote 0.0% (0 of 8)
Lung N/A heterozygote 0.0% (0 of 8)
Lymph node N/A heterozygote 0.0% (0 of 8)
Mammary gland N/A heterozygote 0.0% (0 of 8)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 8)
Olfactory lobe N/A heterozygote 0.0% (0 of 8)
Oral epithelium N/A heterozygote 0.0% (0 of 8)
Ovary N/A heterozygote 0.0% (0 of 8)
Oviduct N/A heterozygote 0.0% (0 of 8)
Pancreas N/A heterozygote 0.0% (0 of 8)
Parathyroid gland N/A heterozygote 0.0% (0 of 8)
Peripheral nervous system N/A heterozygote 0.0% (0 of 8)
Peyer's patch N/A heterozygote 0.0% (0 of 8)
Pituitary gland N/A heterozygote 0.0% (0 of 8)
Skeletal muscle N/A heterozygote 0.0% (0 of 8)
Skin N/A heterozygote 0.0% (0 of 8)
Small intestine N/A heterozygote 0.0% (0 of 8)
Spinal cord N/A heterozygote 0.0% (0 of 8)
Spleen N/A heterozygote 0.0% (0 of 8)
Stomach N/A heterozygote 0.0% (0 of 8)
Striatum N/A heterozygote 0.0% (0 of 8)
Thymus N/A heterozygote 0.0% (0 of 8)
Trachea N/A heterozygote 0.0% (0 of 8)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 8)
Urinary bladder N/A heterozygote 0.0% (0 of 8)
Uterus N/A heterozygote 0.0% (0 of 8)
Vascular system N/A heterozygote 0.0% (0 of 8)
White adipose tissue N/A heterozygote 0.0% (0 of 8)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 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.

Adult LacZ

LacZ Images Wholemount

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

X-ray

XRay Images Forepaw

6 Images

X-ray

XRay Images Skull Lateral Orientation

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Cyp2ab1 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 Cyp2ab1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Iron deficiency anemia, Microcytic anemia, Incre... ORPHA:398063
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hepatomegaly, Calcinosis, Hypercalcemia, Anemia, Splenomegaly OMIM:239200
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Pancreatitis OMIM:600740
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypokalemia OMIM:227810
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Cystinosis
Hypophosphatemia, Portal hypertension, Hypokalemia ORPHA:213
Fanconi-Bickel Syndrome
Hypophosphatemia, Hepatocellular carcinoma, Hepatomegaly, Hypertriglyceridemia, Abnormal hepatic ... ORPHA:2088
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Hepatomegaly, Jaundice ORPHA:469
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Pancreatitis, Infantile hypercalcemia, Hy... ORPHA:405
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Exocrine pancreatic insufficiency, Reticulocytosis, Hepatic steat... ORPHA:699
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Anemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Mccune-Albright Syndrome
Hypophosphatemia, Hepatocellular adenoma, Cholestasis, Pancytopenia, Hepatitis, Pancreatitis, Bon... ORPHA:562
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia, Pancreatitis ORPHA:99878
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Hepatic steatosis, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia... OMIM:229600
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Opsismodysplasia
Hypophosphatemia OMIM:258480
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Dent Disease 1
Hypophosphatemia OMIM:300009
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Thyrotoxic Periodic Paralysis
Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia... ORPHA:79102
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia, Pancreatitis, Infantile hypercalcemia, Pancreatic adenocarcinoma ORPHA:99880
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia, Pancreatitis, Infantile hypercalcemia, Pancreatic adenocarcinoma ORPHA:143
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Elevated circulating cre... ORPHA:94093
Raine Syndrome
Hypophosphatemia OMIM:259775
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:667
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Dent Disease
Elevated circulating creatine kinase concentration, Hyperuricosuria, Renal hypophosphatemia ORPHA:1652
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Thrombocytopenia, Hypokalemi... ORPHA:534
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79444
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79443
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Thrombocytopenia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651

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 Cyp2ab1

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 Cyp2ab1.

No publications found that use IMPC mice or data for Cyp2ab1.

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MGI Allele Allele Type Produced
Cyp2ab1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Cyp2ab1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cyp2ab1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cyp2ab1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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