Phenotypes associated with this allele

• Allele Symbol: Ghitm^em1Ltk
• Allele Name: endonuclease-mediated mutation 1, Institute of Laboratory Animal Science
• Allele ID: MGI:7442770
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ghitm^em1Ltk/Ghitm^em1Ltk	C57BL6J-Ghitm^em1Ltk	MGI:7442782

Genotype
MGI:7442782

hm1

• Allelic Composition: Ghitm^em1Ltk/Ghitm^em1Ltk
• Genetic Background: C57BL6J-Ghitm^em1Ltk

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:327550 )

• some mice die between E14 and birth

muscle

abnormal skeletal muscle fiber morphology ( J:327550 )

• swollen mitochondria with disrupted cristae structure and reduced calcium ion uptake in skeletal muscles

liver/biliary system

abnormal hepatocyte mitochondrial morphology ( J:327550 )

• liver mitochondria exhibit increased basal and potassium ion-induced swelling compared with wild-type cells

behavior/neurological

decreased grip strength ( J:327550 )

cardiovascular system

cardiovascular system phenotype ( J:327550 )

N • cardiac muscle function is normal

cellular

abnormal mitochondrial morphology ( J:327550 )

• swollen mitochondria with disrupted cristae structure and reduced calcium ion uptake in skeletal muscles

• however, cardiac muscle mitochondria exhibit normal function

abnormal hepatocyte mitochondrial morphology ( J:327550 )

• liver mitochondria exhibit increased basal and potassium ion-induced swelling compared with wild-type cells