Phenotypes associated with this allele

• Allele Symbol: Ndufab1^tm1Xiwa
• Allele Name: targeted mutation 1, Xianhua Wang
• Allele ID: MGI:6476764
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Myl1^tm1(cre)Sjb/0 Ndufab1^tm1Xiwa/Ndufab1^tm1Xiwa	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:6476948

Genotype
MGI:6476948

cn1

• Allelic Composition: Myl1^tm1(cre)Sjb/0; Ndufab1^tm1Xiwa/Ndufab1^tm1Xiwa
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:293657 )

N • normal blood triglyceride, cholesterol and lactate levels

hypoglycemia ( J:293657 )

• 50% of normal level at age P3

decreased circulating insulin level ( J:293657 )

• 41% of normal level at age P3

decreased liver glycogen level ( J:293657 )

• at age P3

decreased skeletal muscle glycogen level ( J:293657 )

• at age P3

growth/size/body

decreased body size ( J:293657 )

• small body size at birth

postnatal growth retardation ( J:293657 )

muscle

muscle phenotype ( J:293657 )

N • normal muscle morphology in newborns

decreased skeletal muscle glycogen level ( J:293657 )

• at age P3

liver/biliary system

decreased liver glycogen level ( J:293657 )

• at age P3

mortality/aging

preweaning lethality, complete penetrance ( J:293657 )

• early death within 5 postnatal days

cellular

disorganized mitochondrial cristae ( J:293657 )

• disrupted cristae and larger mitochondrial volumes devoid of cristae in skeletal muscle