Phenotypes associated with this allele

• Allele Symbol: Prkab1^{tm1b(KOMP)Wtsi}
• Allele Name: targeted mutation 1b, Wellcome Trust Sanger Institute
• Allele ID: MGI:5501071
• Summary: 13 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prkab1^tm1b(KOMP)Wtsi/Prkab1^tm1b(KOMP)Wtsi	B6N(Cg)-Prkab1^tm1b(KOMP)Wtsi/J	MGI:5763851
hm2	Prkab1^tm1b(KOMP)Wtsi/Prkab1^tm1b(KOMP)Wtsi	C57BL/6N-Prkab1^tm1b(KOMP)Wtsi/Bay	MGI:5767770
hm3	Prkab1^tm1b(KOMP)Wtsi/Prkab1^tm1b(KOMP)Wtsi	C57BL/6N-Prkab1^tm1b(KOMP)Wtsi/Ccpcz	MGI:6408591
hm4	Prkab1^tm1b(KOMP)Wtsi/Prkab1^tm1b(KOMP)Wtsi	C57BL/6N-Prkab1^tm1b(KOMP)Wtsi/H	MGI:5757565
hm5	Prkab1^tm1b(KOMP)Wtsi/Prkab1^tm1b(KOMP)Wtsi	C57BL/6N-Prkab1^tm1b(KOMP)Wtsi/Ieg	MGI:5757567
hm6	Prkab1^tm1b(KOMP)Wtsi/Prkab1^tm1b(KOMP)Wtsi	C57BL/6N-Prkab1^tm1b(KOMP)Wtsi/MbpMmucd	MGI:6325169
hm7	Prkab1^tm1b(KOMP)Wtsi/Prkab1^tm1b(KOMP)Wtsi	C57BL/6N-Prkab1^tm1b(KOMP)Wtsi/Orl	MGI:5767771
hm8	Prkab1^tm1b(KOMP)Wtsi/Prkab1^tm1b(KOMP)Wtsi	C57BL/6N-Prkab1^tm1b(KOMP)Wtsi/Rbrc	MGI:5757566
hm9	Prkab1^tm1b(KOMP)Wtsi/Prkab1^tm1b(KOMP)Wtsi	C57BL/6N-Prkab1^tm1b(KOMP)Wtsi/Ucd	MGI:5757564
hm10	Prkab1^tm1b(KOMP)Wtsi/Prkab1^tm1b(KOMP)Wtsi	C57BL/6N-Prkab1^tm1b(KOMP)Wtsi/Wtsi	MGI:5757562
hm11	Prkab1^tm1b(KOMP)Wtsi/Prkab1^tm1b(KOMP)Wtsi	involves: C57BL/6N	MGI:5823060
ht12	Prkab1^tm1b(KOMP)Wtsi/Prkab1^+	C57BL/6N-Prkab1^tm1b(KOMP)Wtsi/Ccpcz	MGI:6408590
ht13	Prkab1^tm1b(KOMP)Wtsi/Prkab1^+	C57BL/6N-Prkab1^tm1b(KOMP)Wtsi/Ieg	MGI:5757561

Genotype
MGI:5763851

hm1

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1^{tm1b(KOMP)Wtsi}
• Genetic Background: B6N(Cg)-Prkab1^{tm1b(KOMP)Wtsi}/J
• Cell Lines: EPD0033_3_C09

Data Sources

IMPC Data for Prkab1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cardiovascular system

increased heart weight ( J:211773 )

♂

IMPC - JAX

growth/size/body

increased heart weight ( J:211773 )

♂

IMPC - JAX

hematopoietic system

decreased erythrocyte cell number ( J:211773 )

♂

IMPC - JAX

decreased hematocrit ( J:211773 )

♂

IMPC - JAX

decreased hemoglobin content ( J:211773 )

♂

IMPC - JAX

decreased mean corpuscular hemoglobin ( J:211773 )

IMPC - JAX

decreased mean corpuscular hemoglobin concentration ( J:211773 )

♂

IMPC - JAX

decreased mean corpuscular volume ( J:211773 )

♂

IMPC - JAX

homeostasis/metabolism

increased circulating bilirubin level ( J:211773 )

♀

IMPC - JAX

decreased circulating cholesterol level ( J:211773 )

IMPC - JAX

decreased circulating HDL cholesterol level ( J:211773 )

IMPC - JAX

mortality/aging

preweaning lethality, incomplete penetrance ( J:211773 )

IMPC - JAX

Genotype
MGI:5767770

hm2

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1^{tm1b(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Prkab1^{tm1b(KOMP)Wtsi}/Bay
• Cell Lines: EPD0033_3_C09

Data Sources

IMPC Data for Prkab1

cardiovascular system

enlarged heart ( J:211773 )

♂

IMPC - BCM

growth/size/body

enlarged heart ( J:211773 )

♂

IMPC - BCM

increased spleen weight ( J:211773 )

IMPC - BCM

hematopoietic system

increased spleen weight ( J:211773 )

IMPC - BCM

immune system

increased spleen weight ( J:211773 )

IMPC - BCM

mortality/aging

preweaning lethality, incomplete penetrance ( J:211773 )

♂

IMPC - BCM

vision/eye

abnormal retina inner nuclear layer morphology ( J:211773 )

♀

IMPC - BCM

decreased total retina thickness ( J:211773 )

IMPC - BCM

Genotype
MGI:6408591

hm3

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1^{tm1b(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Prkab1^{tm1b(KOMP)Wtsi}/Ccpcz
• Cell Lines: EPD0033_3_C09

Data Sources

IMPC Data for Prkab1

behavior/neurological

no spontaneous movement ( J:211773 )

IMPC - CCP-IMG

cardiovascular system

increased heart rate ( J:211773 )

IMPC - CCP-IMG

shortened RR interval ( J:211773 )

IMPC - CCP-IMG

growth/size/body

decreased body weight ( J:211773 )

♂

IMPC - CCP-IMG

enlarged spleen ( J:211773 )

♀

IMPC - CCP-IMG

increased spleen weight ( J:211773 )

IMPC - CCP-IMG

hematopoietic system

decreased hematocrit ( J:211773 )

IMPC - CCP-IMG

decreased hemoglobin content ( J:211773 )

IMPC - CCP-IMG

decreased mean corpuscular hemoglobin ( J:211773 )

IMPC - CCP-IMG

decreased mean corpuscular volume ( J:211773 )

IMPC - CCP-IMG

increased red blood cell distribution width ( J:211773 )

IMPC - CCP-IMG

abnormal spleen morphology ( J:211773 )

♀

IMPC - CCP-IMG

enlarged spleen ( J:211773 )

♀

IMPC - CCP-IMG

increased spleen weight ( J:211773 )

IMPC - CCP-IMG

homeostasis/metabolism

increased fasting circulating glucose level ( J:211773 )

IMPC - CCP-IMG

increased circulating alanine transaminase level ( J:211773 )

♂

IMPC - CCP-IMG

decreased circulating chloride level ( J:211773 )

IMPC - CCP-IMG

immune system

abnormal spleen morphology ( J:211773 )

♀

IMPC - CCP-IMG

enlarged spleen ( J:211773 )

♀

IMPC - CCP-IMG

increased spleen weight ( J:211773 )

IMPC - CCP-IMG

respiratory system

decreased lung elastance ( J:211773 )

IMPC - CCP-IMG

increased lung compliance ( J:211773 )

IMPC - CCP-IMG

Genotype
MGI:5757565

hm4

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1^{tm1b(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Prkab1^{tm1b(KOMP)Wtsi}/H
• Cell Lines: EPD0033_3_C09

Data Sources

IMPC Data for Prkab1

growth/size/body

increased spleen weight ( J:211773 )

IMPC - HAR

hematopoietic system

increased spleen weight ( J:211773 )

IMPC - HAR

decreased hematocrit ( J:211773 )

IMPC - HAR

decreased hemoglobin content ( J:211773 )

IMPC - HAR

decreased mean corpuscular hemoglobin ( J:211773 )

IMPC - HAR

decreased mean corpuscular hemoglobin concentration ( J:211773 )

IMPC - HAR

decreased mean corpuscular volume ( J:211773 )

IMPC - HAR

increased red blood cell distribution width ( J:211773 )

IMPC - HAR

increased neutrophil cell number ( J:211773 )

♂

IMPC - HAR

decreased lymphocyte cell number ( J:211773 )

♂

IMPC - HAR

homeostasis/metabolism

increased fasting circulating glucose level ( J:211773 )

♀

IMPC - HAR

decreased circulating cholesterol level ( J:211773 )

♂

IMPC - HAR

decreased circulating HDL cholesterol level ( J:211773 )

♂

IMPC - HAR

decreased circulating iron level ( J:211773 )

♀

IMPC - HAR

impaired glucose tolerance ( J:211773 )

♂

IMPC - HAR

immune system

increased spleen weight ( J:211773 )

IMPC - HAR

increased neutrophil cell number ( J:211773 )

♂

IMPC - HAR

decreased lymphocyte cell number ( J:211773 )

♂

IMPC - HAR

Genotype
MGI:5757567

hm5

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1^{tm1b(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Prkab1^{tm1b(KOMP)Wtsi}/Ieg
• Cell Lines: EPD0033_3_C09

Data Sources

IMPC Data for Prkab1

mortality/aging

preweaning lethality, incomplete penetrance ( J:211773 )

IMPC - HMGU

vision/eye

abnormal lens morphology ( J:211773 )

IMPC - HMGU

Genotype
MGI:6325169

hm6

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1^{tm1b(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Prkab1^{tm1b(KOMP)Wtsi}/MbpMmucd
• Cell Lines: EPD0033_3_C09

Data Sources

IMPC Data for Prkab1

behavior/neurological

impaired contextual conditioning behavior ( J:211773 )

♂

IMPC - TCP

abnormal freezing behavior ( J:211773 )

♂

IMPC - TCP

hematopoietic system

decreased hematocrit ( J:211773 )

IMPC - TCP

decreased hemoglobin content ( J:211773 )

IMPC - TCP

decreased mean corpuscular hemoglobin ( J:211773 )

IMPC - TCP

decreased mean corpuscular volume ( J:211773 )

IMPC - TCP

increased red blood cell distribution width ( J:211773 )

IMPC - TCP

homeostasis/metabolism

decreased circulating cholesterol level ( J:211773 )

♂

IMPC - TCP

decreased circulating HDL cholesterol level ( J:211773 )

♂

IMPC - TCP

impaired glucose tolerance ( J:211773 )

IMPC - TCP

mortality/aging

preweaning lethality, incomplete penetrance ( J:211773 )

IMPC - TCP

Genotype
MGI:5767771

hm7

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1^{tm1b(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Prkab1^{tm1b(KOMP)Wtsi}/Orl
• Cell Lines: EPD0033_3_C09

Data Sources

IMPC Data for Prkab1

behavior/neurological

decreased grip strength ( J:211773 )

♂

IMPC - ICS

cardiovascular system

increased heart weight ( J:211773 )

♂

IMPC - ICS

growth/size/body

increased heart weight ( J:211773 )

♂

IMPC - ICS

hematopoietic system

decreased hemoglobin content ( J:211773 )

IMPC - ICS

decreased mean corpuscular hemoglobin ( J:211773 )

IMPC - ICS

decreased mean corpuscular hemoglobin concentration ( J:211773 )

IMPC - ICS

decreased mean corpuscular volume ( J:211773 )

IMPC - ICS

vision/eye

decreased total retina thickness ( J:211773 )

♀

IMPC - ICS

anophthalmia ( J:211773 )

♀

IMPC - ICS

Genotype
MGI:5757566

hm8

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1^{tm1b(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Prkab1^{tm1b(KOMP)Wtsi}/Rbrc
• Cell Lines: EPD0033_3_C09

Data Sources

IMPC Data for Prkab1

hematopoietic system

decreased hematocrit ( J:211773 )

IMPC - RBRC

increased glycosylated hemoglobin level ( J:211773 )

♀

IMPC - RBRC

decreased hemoglobin content ( J:211773 )

IMPC - RBRC

decreased mean corpuscular hemoglobin ( J:211773 )

IMPC - RBRC

decreased mean corpuscular hemoglobin concentration ( J:211773 )

IMPC - RBRC

decreased mean corpuscular volume ( J:211773 )

IMPC - RBRC

increased red blood cell distribution width ( J:211773 )

IMPC - RBRC

homeostasis/metabolism

increased glycosylated hemoglobin level ( J:211773 )

♀

IMPC - RBRC

increased circulating bilirubin level ( J:211773 )

♀

IMPC - RBRC

increased circulating alkaline phosphatase level ( J:211773 )

IMPC - RBRC

decreased circulating amylase level ( J:211773 )

IMPC - RBRC

skeleton

decreased bone mineral content ( J:211773 )

♀

IMPC - RBRC

decreased bone mineral density ( J:211773 )

♀

IMPC - RBRC

Genotype
MGI:5757564

hm9

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1^{tm1b(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Prkab1^{tm1b(KOMP)Wtsi}/Ucd
• Cell Lines: EPD0033_3_C09

Data Sources

IMPC Data for Prkab1

growth/size/body

enlarged kidney ( J:211773 )

♂

IMPC - UCD

enlarged spleen ( J:211773 )

♀

IMPC - UCD

increased spleen weight ( J:211773 )

♂

IMPC - UCD

hematopoietic system

decreased mean corpuscular hemoglobin ( J:211773 )

IMPC - UCD

decreased mean corpuscular volume ( J:211773 )

IMPC - UCD

increased red blood cell distribution width ( J:211773 )

IMPC - UCD

abnormal spleen morphology ( J:211773 )

♀

IMPC - UCD

enlarged spleen ( J:211773 )

♀

IMPC - UCD

increased spleen weight ( J:211773 )

♂

IMPC - UCD

immune system

abnormal spleen morphology ( J:211773 )

♀

IMPC - UCD

enlarged spleen ( J:211773 )

♀

IMPC - UCD

increased spleen weight ( J:211773 )

♂

IMPC - UCD

mortality/aging

preweaning lethality, incomplete penetrance ( J:211773 )

IMPC - UCD

renal/urinary system

abnormal kidney morphology ( J:211773 )

♂

IMPC - UCD

enlarged kidney ( J:211773 )

♂

IMPC - UCD

reproductive system

abnormal epididymis morphology ( J:211773 )

♂

IMPC - UCD

enlarged epididymis ( J:211773 )

♂

IMPC - UCD

Genotype
MGI:5757562

hm10

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1^{tm1b(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Prkab1^{tm1b(KOMP)Wtsi}/Wtsi
• Cell Lines: EPD0033_3_C09

Data Sources

IMPC Data for Prkab1

behavior/neurological

absent pinna reflex ( J:211773 )

IMPC - WTSI

hematopoietic system

decreased hematocrit ( J:211773 )

IMPC - WTSI

decreased hemoglobin content ( J:211773 )

IMPC - WTSI

decreased mean corpuscular hemoglobin ( J:211773 )

IMPC - WTSI

increased red blood cell distribution width ( J:211773 )

IMPC - WTSI

increased mean platelet volume ( J:211773 )

IMPC - WTSI

increased memory-marker CD4-negative NK T cell number ( J:211773 )

IMPC - WTSI

increased memory-marker gamma-delta T cell number ( J:211773 )

IMPC - WTSI

homeostasis/metabolism

increased circulating bilirubin level ( J:211773 )

IMPC - WTSI

decreased circulating cholesterol level ( J:211773 )

IMPC - WTSI

decreased circulating HDL cholesterol level ( J:211773 )

IMPC - WTSI

decreased circulating LDL cholesterol level ( J:211773 )

♂

IMPC - WTSI

immune system

increased memory-marker CD4-negative NK T cell number ( J:211773 )

IMPC - WTSI

increased memory-marker gamma-delta T cell number ( J:211773 )

IMPC - WTSI

Genotype
MGI:5823060

hm11

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1^{tm1b(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N
• Cell Lines: EPD0033_3_C09

growth/size/body

enlarged spleen ( J:236972 )

increased spleen weight ( J:236972 )

• increased spleen weight and spleen/body weight ratio in both sexes

hematopoietic system

enlarged spleen ( J:236972 )

increased spleen weight ( J:236972 )

• increased spleen weight and spleen/body weight ratio in both sexes

extramedullary hematopoiesis ( J:236972 )

• mice exhibit hemolytic anemia with compensatory extramedullary hematopoiesis

hemolytic anemia ( J:236972 )

• regenerative hemolytic anemia

microcytic anemia ( J:236972 )

• mice exhibit microcytic anemia with anisocytosis at 16 weeks of age

• however, anemia is normocytic at 4 and 6 weeks of age

increased erythroid progenitor cell number ( J:236972 , J:236972 )

• splenic erythroid (Ter119)/leukocyte (CD45) ratio is significantly increased in both sexes (J:236972)

♀ • erythroid (Ter119)/leukocyte (CD45) ratio is significantly increased in the bone marrow of female, but not male, mice (J:236972)

increased erythroblast number ( J:236972 )

• percentage of splenic and bone marrow erythroblasts is significantly increased in both sexes

abnormal erythrocyte morphology ( J:236972 )

• erythrocytes exhibit variable appearance, with features of acanthocytes, schistocytes, stomatocytes, and echinocytes

abnormal erythropoiesis ( J:236972 )

• mice show a reactive increase in erythroid hematopoiesis in spleen and, to a lesser extent, in bone marrow in response to hemolytic anemia

decreased erythrocyte cell number ( J:236972 , J:236972 , J:236972 )

• percentage of splenic erythrocytes is significantly decreased in both sexes (J:236972)

♀ • percentage of bone marrow erythrocytes is significantly decreased in female, but not male, mice (J:236972)

♂ • red blood cell count is significantly decreased in males, but not females, at 16 weeks of age (J:236972)

♂ • however, white blood cell count is normal in both sexes (J:236972)

decreased hematocrit ( J:236972 )

• hematocrit is significantly reduced at 16 weeks of age

decreased hemoglobin content ( J:236972 )

• hemoglobin is significantly reduced at 16 weeks of age

decreased mean corpuscular hemoglobin concentration ( J:236972 )

♀ • MCHC is significantly decreased in females, but not males, at 16 weeks of age

increased red blood cell distribution width ( J:236972 )

• red blood cell distribution width is significantly increased in both sexes at 16 weeks of age

anisocytosis ( J:236972 )

• SEM analysis confirmed anisocytosis

acanthocytosis ( J:236972 )

echinocytosis ( J:236972 )

microcytosis ( J:236972 )

• erythrocytes are significantly smaller in both sexes at 16 weeks of age

schistocytosis ( J:236972 )

stomatocytosis ( J:236972 )

increased mean platelet volume ( J:236972 )

• mean platelet volume is significantly increased in both sexes at 16 weeks of age

• however, circulating platelet count is normal

abnormal reticulocyte cell number ( J:236972 , J:236972 )

• percentage of splenic reticulocytes is significantly increased in both sexes (J:236972)

♀ • percentage of bone marrow reticulocytes is significantly increased in female, but not male, mice (J:236972)

reticulocytosis ( J:236972 )

• percentage of circulating reticulocytes is significantly increased in both sexes

increased spleen iron level ( J:236972 )

• significant increase in splenic iron deposits

increased spleen red pulp amount ( J:236972 )

• spleens show an expansion of the peripheral red pulp caused by increased extramedullary hematopoiesis and increased red cell breakdown with hemosiderin in the red pulp

decreased erythrocyte osmotic fragility ( J:236972 )

• erythrocytes exhibit increased osmotic resistance

homeostasis/metabolism

increased spleen iron level ( J:236972 )

• significant increase in splenic iron deposits

increased circulating erythropoietin level ( J:236972 )

• circulating erythropoietin is significantly increased in both sexes

decreased circulating iron level ( J:236972 )

• significant decrease in circulating iron levels in both sexes

increased circulating ferritin level ( J:236972 )

• significant increase in circulating ferritin levels in both sexes

immune system

enlarged spleen ( J:236972 )

increased spleen weight ( J:236972 )

• increased spleen weight and spleen/body weight ratio in both sexes

increased spleen iron level ( J:236972 )

• significant increase in splenic iron deposits

increased spleen red pulp amount ( J:236972 )

• spleens show an expansion of the peripheral red pulp caused by increased extramedullary hematopoiesis and increased red cell breakdown with hemosiderin in the red pulp

skeleton

abnormal bone marrow morphology ( J:236972 )

• bone marrow shows a reduction in adipocytes of the marrow stroma and a mild hematopoietic hyperplasia with a mild increase in erythroid subsets

Genotype
MGI:6408590

ht12

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1⁺
• Genetic Background: C57BL/6N-Prkab1^{tm1b(KOMP)Wtsi}/Ccpcz
• Cell Lines: EPD0033_3_C09

Data Sources

IMPC Data for Prkab1

endocrine/exocrine glands

abnormal testis morphology ( J:211773 )

♂

IMPC - CCP-IMG

enlarged testis ( J:211773 )

♂

IMPC - CCP-IMG

hematopoietic system

decreased lymphocyte cell number ( J:211773 )

♂

IMPC - CCP-IMG

decreased Ly6C-positive mature NK cell number ( J:211773 )

♀

IMPC - CCP-IMG

immune system

decreased lymphocyte cell number ( J:211773 )

♂

IMPC - CCP-IMG

decreased Ly6C-positive mature NK cell number ( J:211773 )

♀

IMPC - CCP-IMG

reproductive system

abnormal testis morphology ( J:211773 )

♂

IMPC - CCP-IMG

enlarged testis ( J:211773 )

♂

IMPC - CCP-IMG

Genotype
MGI:5757561

ht13

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1⁺
• Genetic Background: C57BL/6N-Prkab1^{tm1b(KOMP)Wtsi}/Ieg
• Cell Lines: EPD0033_3_C09

Data Sources

IMPC Data for Prkab1

cardiovascular system

abnormal retina vasculature morphology ( J:211773 )

♂

IMPC - HMGU

abnormal retina blood vessel morphology ( J:211773 )

♂

IMPC - HMGU

homeostasis/metabolism

decreased circulating phosphate level ( J:211773 )

♀

IMPC - HMGU

vision/eye

abnormal retina vasculature morphology ( J:211773 )

♂

IMPC - HMGU

abnormal retina blood vessel morphology ( J:211773 )

♂

IMPC - HMGU

abnormal lens morphology ( J:211773 )

♀

IMPC - HMGU

cataract ( J:211773 )

♀

IMPC - HMGU

decreased total retina thickness ( J:211773 )

♂

IMPC - HMGU