Phenotypes associated with this allele

• Allele Symbol: Prkg2^tm1Pfe
• Allele Name: targeted mutation 1, Alexander Pfeifer
• Allele ID: MGI:2449704
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prkg2^tm1Pfe/Prkg2^tm1Pfe	involves: 129S1/Sv * 129X1/SvJ	MGI:3042792

Genotype
MGI:3042792

hm1

• Allelic Composition: Prkg2^tm1Pfe/Prkg2^tm1Pfe
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

adipose tissue

adipose tissue phenotype ( J:37306 )

N • normal total body fat

craniofacial

abnormal cranium morphology ( J:37306 )

digestive/alimentary system

decreased digestive secretion ( J:37306 )

• in response to Escherichia coli toxin, STa (an enterotoxin that normally stimulates cGMP accumulation and intestinal fluid secretion)

growth/size/body

decreased body weight ( J:37306 )

• at 8 to 10 weeks, mice weighed 14% less than controls

decreased body length ( J:37306 )

• at 8 to 10 weeks, mice were 16% shorter than controls

disproportionate dwarf ( J:37306 )

• evident as mice grew, with difference in body length, compared to wild-type controls, increasing until 8 to 10 weeks of age

• size and weight of organs within shortened trunk was normal

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:37306 )

N • normal serum electrolyte levels

limbs/digits/tail

short humerus ( J:37306 )

short ulna ( J:37306 )

short femur ( J:37306 )

short tibia ( J:37306 )

short limbs ( J:37306 )

• 23 to 30% reduction in length of long bones

skeleton

skeleton phenotype ( J:37306 )

N • normal bone density

abnormal cranium morphology ( J:37306 )

short humerus ( J:37306 )

short ulna ( J:37306 )

short femur ( J:37306 )

short tibia ( J:37306 )

abnormal long bone hypertrophic chondrocyte zone ( J:37306 )

• at 3 to 4 weeks growth plate had irregular and broadened hypertrophic zones, with intermingled patches of nonhypertrophic cells

• hypertrophic cells were proliferative chondrocytes

• at 6 to 8 weeks, growth plates became smaller, with wedge-shaped columns of mixed hypertrophic and proliferative chondrocytes protruding into trabecular bone

small vertebrae ( J:37306 )

• 23 to 30% reduction in length of vertebrae

abnormal bone ossification ( J:37306 )

• while long bones were normal at birth, beginning at first week postpartum, defects in axial organization of the growth plate developed with age, with peak at 3 to 4 weeks