Gene Summary

Name:
protein kinase, AMP-activated, beta 1 non-catalytic subunit
Synonyms:
1300015D22Rik

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
anophthalmia Prkab1tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal heart morphology Prkab1em2(IMPC)Mbp HOM Early adult 0.00
decreased lymphocyte cell number Prkab1tm1b(KOMP)Wtsi HET Early adult 4.59×10-05
increased spleen weight Prkab1em1(IMPC)Bay HOM Early adult 1.79×10-13
decreased mean corpuscular hemoglobin Prkab1tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased mean corpuscular hemoglobin concentration Prkab1tm1b(KOMP)Wtsi HOM   Early adult 4.30×10-12
increased red blood cell distribution width Prkab1tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal retinal blood vessel pattern Prkab1tm1a(KOMP)Wtsi HOM Early adult 9.30×10-07
decreased erythrocyte cell number Prkab1tm1a(KOMP)Wtsi HOM Early adult 6.96×10-19
increased mean platelet volume Prkab1tm1b(KOMP)Wtsi HOM Early adult 5.10×10-13
impaired glucose tolerance Prkab1em1(IMPC)J HOM   Early adult 6.31×10-07
decreased circulating cholesterol level Prkab1tm1b(KOMP)Wtsi HOM Early adult 7.20×10-11
decreased mean corpuscular volume Prkab1tm1b(KOMP)Wtsi HOM   Early adult 9.11×10-38
impaired glucose tolerance Prkab1tm1b(KOMP)Wtsi HOM Early adult 9.10×10-07
abnormal lens morphology Prkab1tm1b(KOMP)Wtsi HOM   Early adult 1.38×10-06
abnormal lens morphology Prkab1tm1b(KOMP)Wtsi HET Early adult 6.74×10-07
decreased total retina thickness Prkab1tm1b(KOMP)Wtsi HET Early adult 7.96×10-06
increased lung compliance Prkab1tm1b(KOMP)Wtsi HOM   Early adult 1.52×10-05
abnormal thymus morphology Prkab1em2(IMPC)Mbp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Prkab1tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased total retina thickness Prkab1tm1b(KOMP)Wtsi HOM Early adult 4.02×10-05
decreased circulating phosphate level Prkab1tm1b(KOMP)Wtsi HET Early adult 6.41×10-05
increased memory-marker CD4-negative NK T cell number Prkab1tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased fasting circulating glucose level Prkab1em1(IMPC)J HOM Early adult 2.51×10-13
decreased hematocrit Prkab1tm1b(KOMP)Wtsi HOM   Early adult 6.45×10-19
abnormal retinal vasculature morphology Prkab1tm1a(KOMP)Wtsi HOM Early adult 3.70×10-06
increased memory-marker gamma-delta T cell number Prkab1tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased hemoglobin content Prkab1tm1a(KOMP)Wtsi HOM Early adult 2.35×10-20
abnormal epididymis morphology Prkab1tm1b(KOMP)Wtsi HOM Early adult 0.00
absent pinna reflex Prkab1tm1b(KOMP)Wtsi HOM   Early adult 3.54×10-06
increased red blood cell distribution width Prkab1em2(IMPC)Mbp HOM Early adult 1.19×10-15
decreased lymphocyte cell number Prkab1tm1b(KOMP)Wtsi HOM Early adult 1.08×10-05
decreased bone mineral density Prkab1tm1b(KOMP)Wtsi HOM Early adult 3.05×10-05
enlarged epididymis Prkab1tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased mean corpuscular volume Prkab1em2(IMPC)Mbp HOM Early adult 1.82×10-15
enlarged kidney Prkab1tm1b(KOMP)Wtsi HOM Early adult 0.00
increased circulating alkaline phosphatase level Prkab1tm1a(KOMP)Wtsi HOM   Early adult 3.31×10-05
shortened RR interval Prkab1tm1b(KOMP)Wtsi HOM   Early adult 3.90×10-06
enlarged heart Prkab1tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal kidney morphology Prkab1tm1b(KOMP)Wtsi HOM Early adult 0.00
cataract Prkab1tm1b(KOMP)Wtsi HET Early adult 7.48×10-05
decreased circulating iron level Prkab1tm1b(KOMP)Wtsi HOM Early adult 3.02×10-09
enlarged spleen Prkab1tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased kidney weight Prkab1tm1b(KOMP)Wtsi HOM   Early adult 2.50×10-05
decreased mean corpuscular hemoglobin Prkab1em2(IMPC)Mbp HOM Early adult 1.06×10-10
decreased circulating chloride level Prkab1tm1b(KOMP)Wtsi HOM   Early adult 6.19×10-07
increased glycosylated hemoglobin level Prkab1tm1b(KOMP)Wtsi HOM Early adult 2.44×10-06
enlarged thymus Prkab1em2(IMPC)Mbp HOM Early adult 0.00
decreased lung elastance Prkab1tm1b(KOMP)Wtsi HOM   Early adult 1.76×10-05
increased circulating bilirubin level Prkab1tm1a(KOMP)Wtsi HOM Early adult 3.22×10-30
abnormal spleen morphology Prkab1tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased hematocrit Prkab1tm1a(KOMP)Wtsi HOM Early adult 9.72×10-24
decreased circulating LDL cholesterol level Prkab1tm1b(KOMP)Wtsi HOM Early adult 7.75×10-08
decreased circulating amylase level Prkab1tm1b(KOMP)Wtsi HOM   Early adult 7.03×10-05
increased circulating alanine transaminase level Prkab1tm1b(KOMP)Wtsi HOM Early adult 8.05×10-06
increased circulating bilirubin level Prkab1tm1b(KOMP)Wtsi HOM Early adult 1.37×10-19
abnormal retinal blood vessel morphology Prkab1tm1b(KOMP)Wtsi HET Early adult 1.29×10-10
decreased grip strength Prkab1tm1b(KOMP)Wtsi HOM Early adult 8.58×10-05
increased neutrophil cell number Prkab1tm1b(KOMP)Wtsi HOM Early adult 8.68×10-07
decreased bone mineral content Prkab1tm1b(KOMP)Wtsi HOM Early adult 4.45×10-05
increased fasting circulating glucose level Prkab1tm1b(KOMP)Wtsi HOM Early adult 3.75×10-05
increased heart rate Prkab1tm1b(KOMP)Wtsi HOM   Early adult 4.74×10-07
decreased circulating HDL cholesterol level Prkab1tm1b(KOMP)Wtsi HOM Early adult 5.33×10-08
increased vertical activity Prkab1em2(IMPC)Mbp HOM Early adult 1.89×10-06
no spontaneous movement Prkab1tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal response to new environment Prkab1tm1a(KOMP)Wtsi HEM Early adult 7.23×10-05
increased circulating alkaline phosphatase level Prkab1tm1b(KOMP)Wtsi HOM   Early adult 3.79×10-05
abnormal testis morphology Prkab1tm1b(KOMP)Wtsi HET Early adult 0.00
decreased erythrocyte cell number Prkab1tm1b(KOMP)Wtsi HOM   Early adult 4.94×10-05
decreased body weight Prkab1tm1b(KOMP)Wtsi HOM   Early adult 1.17×10-05
decreased hemoglobin content Prkab1tm1b(KOMP)Wtsi HOM   Early adult 3.82×10-34
decreased Ly6C-positive mature NK cell number Prkab1tm1b(KOMP)Wtsi HET Early adult 5.05×10-09
increased heart weight Prkab1tm1b(KOMP)Wtsi HOM Early adult 2.75×10-08
enlarged testis Prkab1tm1b(KOMP)Wtsi HET Early adult 0.00
enlarged heart Prkab1em2(IMPC)Mbp HOM Early adult 0.00
increased spleen weight Prkab1tm1b(KOMP)Wtsi HOM   Early adult 1.54×10-22

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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  Wholemount images  Section images heterozygote 72% (18 of 25)
Adrenal gland  Wholemount images homozygote 100% (2 of 2)
Aorta  Wholemount images  Section images heterozygote 36% (9 of 25)
Aorta  Wholemount images homozygote 100% (2 of 2)
Bone  Wholemount images  Section images heterozygote 31.58% (6 of 19)
Bone  Wholemount images homozygote Ambiguous
Brain  Wholemount images  Section images heterozygote 84% (21 of 25)
Brain  Wholemount images homozygote 100% (2 of 2)
Brainstem  Wholemount images  Section images heterozygote 60% (15 of 25)
Brown adipose tissue  Section images heterozygote 8.7% (2 of 23)
Cartilage tissue  Wholemount images  Section images heterozygote 64% (16 of 25)
Cecum  Wholemount images  Section images heterozygote 35.71% (5 of 14)
Cecum  Wholemount images homozygote 100% (2 of 2)
Cerebellum  Wholemount images  Section images heterozygote 72% (18 of 25)
Cerebral cortex  Wholemount images  Section images heterozygote 64% (16 of 25)
Chest bone  Wholemount images  Section images heterozygote 66.67% (8 of 12)
Chest bone  Wholemount images homozygote 100% (2 of 2)
Colon  Section images heterozygote 50% (6 of 12)
Cranium  Section images heterozygote 0.0% (0 of 10)
Diaphragm  Wholemount images  Section images heterozygote 50% (6 of 12)
Diaphragm  Wholemount images homozygote 100% (2 of 2)
Duodenum  Wholemount images  Section images heterozygote 50% (5 of 10)
Duodenum  Wholemount images homozygote 100% (2 of 2)
Epididymis  Wholemount images  Section images heterozygote 14.29% (2 of 14)
Epididymis  Wholemount images homozygote Not available
Esophagus  Wholemount images  Section images heterozygote 66.67% (14 of 21)
Esophagus  Wholemount images homozygote 100% (2 of 2)
Eye  Wholemount images  Section images heterozygote 48% (12 of 25)
Eye  Wholemount images homozygote Ambiguous
Gall bladder  Wholemount images  Section images heterozygote 28.57% (6 of 21)
Gall bladder  Wholemount images homozygote Ambiguous
Harderian gland  Wholemount images  Section images heterozygote 0.0% (0 of 12)
Harderian gland  Wholemount images homozygote Ambiguous
Heart  Wholemount images  Section images heterozygote 56% (14 of 25)
Heart  Wholemount images homozygote 100% (2 of 2)
Hindlimb  Wholemount images  Section images heterozygote 33.33% (4 of 12)
Hindlimb  Wholemount images homozygote 100% (2 of 2)
Hippocampus  Wholemount images  Section images heterozygote 64% (16 of 25)
Hypothalamus  Wholemount images  Section images heterozygote 64% (16 of 25)
Ileum  Wholemount images  Section images heterozygote 50% (5 of 10)
Ileum  Wholemount images homozygote 100% (2 of 2)
Jejunum  Wholemount images  Section images heterozygote 40% (4 of 10)
Jejunum  Wholemount images homozygote 100% (2 of 2)
Kidney  Wholemount images  Section images heterozygote 72% (18 of 25)
Kidney  Wholemount images homozygote 100% (2 of 2)
Large intestine  Wholemount images  Section images heterozygote 48% (12 of 25)
Large intestine  Wholemount images homozygote 100% (2 of 2)
Liver  Wholemount images  Section images heterozygote 48% (12 of 25)
Liver  Wholemount images homozygote 100% (2 of 2)
Lower urinary tract  Wholemount images  Section images heterozygote 48% (12 of 25)
Lung  Wholemount images  Section images heterozygote 40% (10 of 25)
Lung  Wholemount images homozygote 100% (2 of 2)
Lymph node  Wholemount images  Section images heterozygote 8% (2 of 25)
Lymph node  Wholemount images homozygote Ambiguous
Main olfactory bulb  Wholemount images heterozygote 40% (4 of 10)
Main olfactory bulb  Wholemount images homozygote 100% (2 of 2)
Mammary gland  Wholemount images  Section images heterozygote 8% (2 of 25)
Mammary gland  Wholemount images homozygote 50% (1 of 2)
Mesenteric adipose tissue  Wholemount images heterozygote 0.0% (0 of 10)
Mesenteric adipose tissue  Wholemount images homozygote Ambiguous
Mesenteric lymph node  Wholemount images heterozygote 0.0% (0 of 12)
Mesenteric lymph node  Wholemount images homozygote Ambiguous
Midbrain  Section images heterozygote 66.67% (8 of 12)
Olfactory lobe  Wholemount images  Section images heterozygote 68% (17 of 25)
Oral epithelium  Wholemount images  Section images heterozygote 26.67% (4 of 15)
Oral epithelium  Wholemount images homozygote 100% (2 of 2)
Ovary  Wholemount images  Section images heterozygote 28% (7 of 25)
Ovary  Wholemount images homozygote 50% (1 of 2)
Oviduct  Wholemount images  Section images heterozygote 32% (8 of 25)
Oviduct  Wholemount images homozygote 50% (1 of 2)
Pancreas  Wholemount images  Section images heterozygote 40% (10 of 25)
Pancreas  Wholemount images homozygote 100% (2 of 2)
Parathyroid gland  Wholemount images  Section images heterozygote 42.86% (9 of 21)
Parathyroid gland  Wholemount images homozygote Ambiguous
Parotid gland  Wholemount images heterozygote 0.0% (0 of 12)
Parotid gland  Wholemount images homozygote Ambiguous
Penis  Wholemount images  Section images heterozygote 25% (3 of 12)
Penis  Wholemount images homozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images  Section images heterozygote 40% (10 of 25)
Peyer's patch  Section images heterozygote 4.76% (1 of 21)
Pituitary gland  Wholemount images  Section images heterozygote 68% (17 of 25)
Pituitary gland  Wholemount images homozygote 100% (2 of 2)
Prostate gland  Wholemount images  Section images heterozygote 16% (4 of 25)
Prostate gland  Wholemount images homozygote 0.0% (0 of 2)
Quadriceps  Wholemount images  Section images heterozygote 60% (6 of 10)
Quadriceps  Wholemount images homozygote 100% (2 of 2)
Sciatic nerve  Wholemount images homozygote Ambiguous
Skeletal muscle  Wholemount images  Section images heterozygote 61.9% (13 of 21)
Skin  Wholemount images  Section images heterozygote 44% (11 of 25)
Skin  Wholemount images homozygote 100% (2 of 2)
Small intestine  Wholemount images  Section images heterozygote 48% (12 of 25)
Spinal cord  Wholemount images  Section images heterozygote 88% (22 of 25)
Spinal cord  Wholemount images homozygote 100% (2 of 2)
Spleen  Wholemount images  Section images heterozygote 8% (2 of 25)
Spleen  Wholemount images homozygote Ambiguous
Stomach  Wholemount images  Section images heterozygote 64% (16 of 25)
Stomach  Wholemount images homozygote 100% (2 of 2)
Striatum  Wholemount images  Section images heterozygote 56% (14 of 25)
Sublingual gland  Wholemount images heterozygote 0.0% (0 of 12)
Sublingual gland  Wholemount images homozygote Ambiguous
Submandibular gland  Wholemount images  Section images heterozygote 28.57% (4 of 14)
Submandibular gland  Wholemount images homozygote Ambiguous
Testis  Wholemount images  Section images heterozygote 32% (8 of 25)
Testis  Wholemount images homozygote 50% (1 of 2)
Thalamus  Section images heterozygote 60% (6 of 10)
Thymus  Wholemount images  Section images heterozygote 64% (16 of 25)
Thymus  Wholemount images homozygote 100% (2 of 2)
Thyroid gland  Wholemount images  Section images heterozygote 24% (6 of 25)
Thyroid gland  Wholemount images homozygote Ambiguous
Tongue  Wholemount images  Section images heterozygote 69.23% (9 of 13)
Tongue  Wholemount images homozygote 100% (2 of 2)
Trachea  Wholemount images  Section images heterozygote 72% (18 of 25)
Trachea  Wholemount images homozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images  Section images heterozygote 57.14% (8 of 14)
Trigeminal V nerve  Wholemount images homozygote 100% (2 of 2)
Urinary bladder  Wholemount images  Section images heterozygote 71.43% (10 of 14)
Urinary bladder  Wholemount images homozygote 100% (2 of 2)
Uterus  Wholemount images  Section images heterozygote 32% (8 of 25)
Uterus  Wholemount images homozygote 50% (1 of 2)
Vagina  Wholemount images  Section images heterozygote 16.67% (2 of 12)
Vagina  Wholemount images homozygote Not available
Vas deferens  Section images heterozygote 7.14% (1 of 14)
Vascular system  Wholemount images  Section images heterozygote 19.05% (4 of 21)
Vesicular gland  Wholemount images heterozygote 0.0% (0 of 14)
Vesicular gland  Wholemount images homozygote Not available
White adipose tissue  Section images heterozygote 0.0% (0 of 25)
Blood vessel N/A heterozygote 0.0% (0 of 4)
N/A Ambiguous
Blood N/A heterozygote 0.0% (0 of 8)
N/A Ambiguous
Bone marrow N/A heterozygote 0.0% (0 of 8)
N/A Ambiguous
Brainstem N/A homozygote 100% (2 of 2)
Brown adipose tissue N/A homozygote 0.0% (0 of 2)
Cartilage tissue N/A homozygote 100% (2 of 2)
Cerebellum N/A homozygote 100% (2 of 2)
Cerebral cortex N/A homozygote 100% (2 of 2)
Colon N/A homozygote 100% (2 of 2)
Cranium N/A homozygote Ambiguous
Gonadal fat pad N/A heterozygote 0.0% (0 of 10)
Gonadal fat pad N/A homozygote 0.0% (0 of 2)
Hippocampus N/A homozygote 100% (2 of 2)
Hypothalamus N/A homozygote 100% (2 of 2)
Lower urinary tract N/A homozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Esophagus N/A heterozygote 50% (2 of 4)
N/A Ambiguous
Olfactory lobe N/A homozygote 100% (2 of 2)
Peripheral nervous system N/A homozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
N/A Ambiguous
Peyer's patch N/A homozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 12)
Skeletal muscle tissue N/A heterozygote 100% (4 of 4)
N/A Ambiguous
Skeletal muscle N/A homozygote 100% (2 of 2)
Small intestine N/A homozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 12)
Stomach pyloric region N/A homozygote 0.0% (0 of 2)
Striatum N/A homozygote 100% (2 of 2)
Thalamus N/A homozygote 100% (2 of 2)
Vas deferens N/A homozygote Not available
Vascular system N/A homozygote 0.0% (0 of 2)
White adipose tissue N/A homozygote 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
Embryo N/A heterozygote 100% (16 of 16)
Embryo N/A homozygote 66.67% (2 of 3)
Eye N/A heterozygote 81.25% (13 of 16)
Head N/A heterozygote 81.25% (13 of 16)
Heart N/A heterozygote 68.75% (11 of 16)
Liver N/A heterozygote 12.5% (2 of 16)
Tail N/A heterozygote 31.25% (5 of 16)
Brain N/A heterozygote 81.25% (13 of 16)
Brain N/A homozygote 66.67% (2 of 3)
Central nervous system ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Cranium N/A heterozygote Ambiguous
N/A Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 18.75% (3 of 16)
Ear N/A homozygote 33.33% (1 of 3)
Outer ear N/A heterozygote Ambiguous
N/A Ambiguous
Eye N/A homozygote 66.67% (2 of 3)
Footplate N/A heterozygote 31.25% (5 of 16)
Footplate N/A homozygote 66.67% (2 of 3)
Forearm N/A heterozygote Ambiguous
N/A Ambiguous
Forebrain N/A heterozygote 81.25% (13 of 16)
Forebrain N/A homozygote 66.67% (2 of 3)
Forelimb N/A heterozygote 31.25% (5 of 16)
Forelimb N/A homozygote 66.67% (2 of 3)
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 31.25% (5 of 16)
Handplate N/A homozygote 66.67% (2 of 3)
Head N/A homozygote 66.67% (2 of 3)
Heart N/A homozygote 33.33% (1 of 3)
Hindbrain N/A heterozygote 81.25% (13 of 16)
Hindbrain N/A homozygote 66.67% (2 of 3)
Hindlimb N/A heterozygote 31.25% (5 of 16)
Hindlimb N/A homozygote 66.67% (2 of 3)
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
N/A Ambiguous
Inner ear N/A heterozygote Ambiguous
N/A Ambiguous
Liver N/A homozygote 33.33% (1 of 3)
Lower leg N/A heterozygote Ambiguous
N/A Ambiguous
Lung N/A heterozygote 12.5% (2 of 16)
Lung N/A homozygote 33.33% (1 of 3)
Mandibular process N/A heterozygote 18.75% (3 of 16)
Mandibular process N/A homozygote 33.33% (1 of 3)
Maxillary process N/A heterozygote 18.75% (3 of 16)
Maxillary process N/A homozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 31.25% (5 of 16)
Midbrain N/A homozygote 66.67% (2 of 3)
Nose N/A heterozygote 25% (1 of 4)
N/A Ambiguous
Oral cavity N/A heterozygote 12.5% (2 of 16)
Oral cavity N/A homozygote 33.33% (1 of 3)
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
N/A Ambiguous
Skeleton N/A heterozygote Ambiguous
N/A Ambiguous
Skin N/A heterozygote 18.75% (3 of 16)
Skin N/A homozygote 33.33% (1 of 3)
Spinal cord N/A heterozygote 25% (1 of 4)
N/A Ambiguous
Tail somite N/A heterozygote 31.25% (5 of 16)
Tail somite N/A homozygote 66.67% (2 of 3)
Tail N/A homozygote 66.67% (2 of 3)
Upper arm N/A heterozygote Ambiguous
N/A Ambiguous
Upper leg N/A heterozygote Ambiguous
N/A Ambiguous
Vibrissa N/A heterozygote Ambiguous
N/A Ambiguous

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)
blood 0.0%
blood vessel 0.0%
bone 0.0%
bone marrow 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)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
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)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
oesophagus 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)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skeletal muscle tissue 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)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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 507)
central nervous system ganglion 1.39% (1 of 72)
cranium 1.59% (1 of 63)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
inner ear 1.59% (1 of 63)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
vibrissa 1.37% (1 of 73)

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

629 Images

Echo

M-Mode Images

32 Images

Sleep Wake

Wake state (bmp file)

25 Images

X-ray

XRay Images Forepaw

66 Images

Adult LacZ

LacZ Images Section

290 Images

X-ray

XRay Images Whole Body Dorso Ventral

76 Images

Embryo LacZ

LacZ images wholemount

134 Images

X-ray

XRay Images Whole Body Dorso Ventral

115 Images

X-ray

XRay Images Whole Body Lateral Orientation

115 Images

X-ray

XRay Images Skull Lateral Orientation

77 Images

Eye Morphology

Images Slit Lamp

9 Images

X-ray

XRay Images Forepaw

38 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Hind Leg and Hip

76 Images

Immunophenotyping

Panel B FCS file(s)

9 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

81 Images

X-ray

XRay Images Hind Leg and Hip

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

38 Images

X-ray

XRay Images Skull Lateral Orientation

38 Images

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

38 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Histopathology

Images

8 Images

Eye Morphology

VIP of left eye

15 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Auditory Brain Stem Response

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

14 Images

Immunophenotyping

Panel A FCS file(s)

9 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Electroretinography

Cone waveform (pdf format)

4 Images

Legacy Phenotype Associated Images

View all 340 images

View all 10 images

View all 6 images

Human diseases caused by Prkab1 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 Prkab1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... OMIM:185000
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Hypogonadism, Anemia, Sp... OMIM:615234
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... OMIM:109270
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Conjugated hyperbilirubinem... OMIM:616860
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Decreased LDL cholesterol concentration, Acanthocytosis OMIM:607236
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Acanthocytosis OMIM:615558
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Mcleod Syndrome
Elevated circulating creatine kinase concentration, Hepatosplenomegaly, Abnormal erythrocyte morp... OMIM:300842
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Delayed puberty, Anemia of inadequate production, Decre... OMIM:609628
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Rh-Null, Regulator Type
Jaundice, Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein concentr... OMIM:604416
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Malaria
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anem... ORPHA:673
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplen... OMIM:611490
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Hypochromic anemia, Pappenheimer bodies, Microcytic... OMIM:600462
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Hemolytic anemia, Ascites OMIM:600461
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Anemia, Acanthocytosis, Hyperammonemia, Schistocytosis OMIM:616457
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr... OMIM:618892
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification, Anemia ORPHA:3319
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:274150
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets, Abnormality of the endocrine system OMIM:608404
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:235400
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cryptorchidism, Cataract OMIM:274205
Abetalipoproteinemia
Abetalipoproteinemia, Acanthocytosis OMIM:200100
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia OMIM:614034
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Dystonia, Hypertonia, Tetraparesis, Rigidity, Spasticity, At... ORPHA:225154
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, Ab... OMIM:612840
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... OMIM:182900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hypokalemia, Decreased mean corpuscular volume, Hepat... OMIM:611590
Porphyria, Acute Hepatic
Hemolytic anemia OMIM:612740
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hypothyroidism, Neutropenia, Hepatomegaly, Elevated circulating creatine kinas... OMIM:251900
Aicardi-Goutieres Syndrome 6
Hemolytic anemia OMIM:615010
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Myoclonic status epilepticus... OMIM:611726
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Acanthocytosis OMIM:200150
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Hemolytic anemia OMIM:301015
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Elevated hepatic iron concentration, Osteoporosis, Cirrhos... ORPHA:231222
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Hyperbilirubinemia, Cholelithias... OMIM:235700
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hypothyroidism, Hypopituitarism, Hypertriglyceridemia, Hypo... OMIM:619013
Thalassemia, Beta+, Silent Allele