Gene Summary

Name:
cytochrome b5 domain containing 2
Synonyms:
neuferricin,  9330151E16Rik

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
increased heart weight Cyb5d2tm1.1(KOMP)Wtsi HOM Early adult 4.94×10-07
increased startle reflex Cyb5d2tm1.1(KOMP)Wtsi HOM Early adult 8.67×10-05
decreased exploration in new environment Cyb5d2tm1.1(KOMP)Wtsi HOM   Early adult 3.71×10-05
hypoactivity Cyb5d2tm1.1(KOMP)Wtsi HOM Early adult 2.24×10-06
decreased thigmotaxis Cyb5d2tm1.1(KOMP)Wtsi HOM Early adult 7.81×10-07
increased circulating sodium level Cyb5d2tm1.1(KOMP)Wtsi HOM   Early adult 1.63×10-05

Download data as:  TSV  XLS

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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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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 585)
aorta 0.17% (1 of 585)
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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

Adult LacZ

LacZ Images Section

29 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

14 Images

X-ray

XRay Images Forepaw

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Cyb5d2 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 Cyb5d2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impairment ORPHA:163921
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Tremor, Anxiety, Depression OMIM:159900
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Apathy, Bradykinesia, Shuffling gait, Fall... ORPHA:412066
Central Diabetes Insipidus
Hyponatremia, Anxiety, Depression, Lethargy ORPHA:178029
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Cognitive impairment, Tremor, Ataxia, Anxiety, Depression, Memo... ORPHA:401901
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Irritability, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Hypernatremia OMIM:304800
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression OMIM:606438
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Resting tremor, Anxiety, Depression OMIM:605909
Pyruvate Carboxylase Deficiency
Dystonia, Hepatomegaly, Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic... ORPHA:3008
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Irritability, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal fear/anxiety-related behavior, Apathy, Anxiety, Increased erythrocyte prot... ORPHA:100924
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia OMIM:616949
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ventricular septal defect, Hypernatremia, Pulmonic stenosis OMIM:615508
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Stiff Person Spectrum Disorder
Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Anxiety, Difficulty walking ORPHA:3198
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Anxiety, Depression ORPHA:83601
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... OMIM:267700
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Dystonia, Inappropriate behavior, Cognitive impairment, E... ORPHA:309246
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia OMIM:618426
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Bradykinesia, Resting tremor, Anxiety, Blepharospasm, Leg dystonia OMIM:606324
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Increased total bilirubin, Splenomegaly, Increased c... OMIM:603553
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Gait disturbance, Hypokalemia, Elevated circulating creatine kinase c... ORPHA:682
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Cholera
Lethargy, Hyponatremia, Hypokalemia, Irritability, Hypocalcemia, Abnormal blood ion concentration ORPHA:173
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Whipple Disease
Myocarditis, Hyponatremia, Hepatomegaly, Pericarditis, Splenomegaly, Ataxia, Depression ORPHA:3452
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Lethargy ORPHA:427
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Double outlet right ventricle, Hyperbilirubinemia, Hyperammonemia, At... ORPHA:1667
Acute Intermittent Porphyria
Hyponatremia, Tremor, Mental deterioration, Anxiety, Depression, Memory impairment ORPHA:79276
Legionnaires Disease
Myocarditis, Hyponatremia, Pericarditis, Endocarditis, Splenomegaly, Ataxia ORPHA:549
Colchicine Poisoning
Myocarditis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal ... ORPHA:31824
Necrotizing Enterocolitis
Abnormal heart morphology, Hyponatremia, Lethargy ORPHA:391673
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Tay-Sachs Disease
Psychomotor deterioration, Dementia, Apathy, Exaggerated startle response OMIM:272800
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Aggressive behavior, Progressive neurologic deterioration, Cardiomegaly, Splenomega... OMIM:252920
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:171876
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia OMIM:613845
Ch├ędiak-Higashi Syndrome
Hypoproteinemia, Hyponatremia, Dementia, Gait disturbance, Pericardial effusion, Cognitive impair... ORPHA:167
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Alg8-Cdg
Hyponatremia, Ataxia ORPHA:79325
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Pericardial effusion, Hypomagnesemia, Hypertriglyceridemia, Hypoca... OMIM:618183
Hartsfield Syndrome
Hypernatremia OMIM:615465
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonem... OMIM:619051
Porphyria Variegata
Hyponatremia, Anxiety, Abnormal circulating porphyrin concentration ORPHA:79473
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Snakebite Envenomation
Hyponatremia ORPHA:449285
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Emotional lability, Irritabili... OMIM:608643
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Stiff-Person Syndrome
Opisthotonus, Agoraphobia, Exaggerated startle response, Anxiety, Depression OMIM:184850
Gm2-Gangliosidosis, Ab Variant
Dystonia, Dementia, Apathy, Exaggerated startle response OMIM:272750
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Japanese Encephalitis
Hyponatremia, Dystonia, Opisthotonus, Cognitive impairment, Tremor, Pill-rolling tremor ORPHA:79139
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:613090
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Splenomegaly, Hypernatremia, Hypoalbuminemia OMIM:619381
Late-Onset Isolated Acth Deficiency
Lethargy, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypertrophic cardiomyopathy ORPHA:361
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hepatomegaly, Hypokalemia, Hyperbilirubinemia, Emotional lability, H... ORPHA:88673
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait disturbance, Cardiomegaly, Cardiomyopathy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxi... OMIM:619259
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Biventricular hypertrophy, Hypocholesterolemia, Muscular ventricul... ORPHA:79324
Infant Botulism
Hyponatremia ORPHA:178478
Familial Dysautonomia
Hyponatremia, Gait disturbance, Ataxia ORPHA:1764
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:602522
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cognitive impairment, Hypercholesterolemia, Hepatosplenomegaly, Hyper... ORPHA:275761
Holoprosencephaly
Dystonia, Hyponatremia, Ventricular septal defect, Cognitive impairment, Tetralogy of Fallot, Abn... ORPHA:2162
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Sandhoff Disease
Hepatomegaly, Progressive psychomotor deterioration, Cardiomegaly, Exaggerated startle response, ... OMIM:268800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:90791
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response, Ataxia, Broad-based gait, Anxiety ORPHA:438216
Tay-Sachs Disease
Gait disturbance, Dystonia, Dysmetria, Exaggerated startle response, Laryngeal dystonia, Tremor, ... ORPHA:845
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Emotional lability, Increased circulati... ORPHA:89938
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:95409
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Self-injurious behavior, Hypophosphatemia, Hypercholesterolemia, Depre... ORPHA:534
Shigellosis
Myocarditis, Hyponatremia, Abnormal blood ion concentration ORPHA:810
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Self-injurious behavior, Aggressive behavior, Emotional lability, D... ORPHA:293987
Adenohypophysitis
Hyponatremia ORPHA:95512
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia ORPHA:293978
Pituitary Apoplexy
Hyponatremia ORPHA:95613
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Progressive neurologic deterioration, Splenomegaly, Decreased plasma ... OMIM:219800
Panhypophysitis
Hyponatremia ORPHA:95513
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia, Abnormal circulating cholesterol c... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia, Abnormal circulating cholesterol c... ORPHA:289548
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:85138
Sheehan Syndrome
Hyponatremia ORPHA:91355
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Myocarditis, Hypocalcemia ORPHA:544482
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cognitive impairment, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid c... ORPHA:731
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Exaggerated startle r... OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Exaggerate... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Attention deficit hyperactivity disorder, Atrial septal defect, Exagge... OMIM:619522

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 Cyb5d2

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 Cyb5d2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Cyb5d2tm1.1(KOMP)Wtsi PMC5503261

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cyb5d2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cyb5d2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cyb5d2tm1.1(KOMP)Wtsi Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Cyb5d2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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