Phenotypes associated with this allele

• Allele Symbol: Heyl^tm1Kkb
• Allele Name: targeted mutation 1, Hiroki Kokubo
• Allele ID: MGI:5302514
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Heyl^tm1Kkb/Heyl^tm1Kkb	Not Specified	MGI:5302519
cx2	Hey1^tm1Kkb/Hey1^tm1Kkb Heyl^tm1Kkb/Heyl^tm1Kkb	B6.Cg-Hey1^tm1Kkb Heyl^tm1Kkb	MGI:5302522
cx3	Hey1^tm1Kkb/Hey1^tm1Kkb Heyl^tm1Kkb/Heyl^tm1Kkb	involves: 129S7/SvEvBrd * C57BL/6	MGI:5302521

Genotype
MGI:5302519

hm1

• Allelic Composition: Heyl^tm1Kkb/Heyl^tm1Kkb
• Genetic Background: Not Specified

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

muscle

muscle phenotype ( J:178310 )

N • skeletal muscle weight as a proportion of total body weight is similar to wild-type controls

Genotype
MGI:5302522

cx2

• Allelic Composition: Hey1^tm1Kkb/Hey1^tm1Kkb; Heyl^tm1Kkb/Heyl^tm1Kkb
• Genetic Background: B6.Cg-Hey1^tm1Kkb Heyl^tm1Kkb

mortality/aging

postnatal lethality, incomplete penetrance ( J:178310 )

• Background Sensitivity: less than 5% of pups on an inbred C57BL/6 (N9) background survive the first 3 weeks of life compared to about 90% of pups on a mixed (N2) background

• survival is better in the N7 generation compared to the F9 generation

muscle

abnormal skeletal muscle satellite cell proliferation ( J:178310 )

• expression analysis indicates satellite cells are not in an undifferentiated quiescent state in adult skeletal muscle in mice from the N7 generation

decreased muscle weight ( J:178310 )

• decrease in muscle weight and muscle weight as a proportion of body weight in mice from the N7 generation compared to littermate controls

abnormal skeletal muscle morphology ( J:178310 )

• satellite cells are slightly larger in mice from the N7 generation compared to littermate controls

decreased skeletal muscle fiber size ( J:178310 )

• in mice from the N7 generation compared to littermate controls

decreased skeletal muscle fiber number ( J:178310 )

• in mice from the N7 generation compared to littermate controls

decreased satellite cell number ( J:178310 )

• in mice from the N7 generation compared to littermate controls

• gradual decrease in satellite cells with age

impaired skeletal muscle regeneration ( J:178310 )

• regeneration following cardiotoxin injection is impaired in mice from the N7 generation

growth/size/body

decreased body size ( J:178310 )

• slight decrease in body size in mice from the N7 generation compared to littermate controls

decreased body weight ( J:178310 )

• significant decrease in body weight in mice from the N7 generation compared to littermate controls

cellular

abnormal skeletal muscle satellite cell proliferation ( J:178310 )

• expression analysis indicates satellite cells are not in an undifferentiated quiescent state in adult skeletal muscle in mice from the N7 generation

Genotype
MGI:5302521

cx3

• Allelic Composition: Hey1^tm1Kkb/Hey1^tm1Kkb; Heyl^tm1Kkb/Heyl^tm1Kkb
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:178310 )

• Background Sensitivity: about 90% of pups survive the first 3 weeks of life on a mixed (N2) background compared to less than 5% of pups on an inbred C57BL/6 (N9) background