Phenotypes Associated with This Genotype

Genotype
MGI:2651426

• Allelic Composition: Surf1^tm1Zev/Surf1^tm1Zev
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * DBA/2

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

mortality/aging

premature death ( J:81773 )

• after variable periods of time, animals exhibited a rapid onset of polypnea, hypoactivity and weight loss followed by death less than 24 hours later

postnatal lethality, incomplete penetrance ( J:81773 )

• incomplete penetrance; males surviving to birth exhibited a partial lethality from 2 days to 2 months of age

prenatal lethality, incomplete penetrance ( J:81773 )

• incomplete penetrance; partial lethality noted beginning at E6.5 and by E18.5 only 2% of surviving embryos are homozygous

behavior/neurological

impaired coordination ( J:81773 )

• homozygous animals exhibited a reduced performance on the Rotarod test compared to controls

decreased grip strength ( J:81773 )

• homozygous animals exhibited a reduced performance in a grip strength test compared to controls

cellular

abnormal respiratory electron transport chain ( J:81773 )

• loss of cytochrome c oxidase activity in muscle, liver and brain was noted

embryo

decreased embryo size ( J:81773 )

• homozygous embryos are smaller than littermates

growth/size/body

decreased embryo size ( J:81773 )

• homozygous embryos are smaller than littermates

decreased body size ( J:81773 )

decreased body weight ( J:81773 )

• homozygous animals are one half the weight of controls

decreased body length ( J:81773 )

• homozygous animals are one half the length of controls

limbs/digits/tail

kinked tail ( J:81773 )

• incomplete penetrance; observed in 10 homozygous mice

reproductive system

reduced fertility ( J:81773 )

• homozygous females exhibited very few pregnancies, and did not carry pregnancies to term; homozygous males exhibited a lower fertility rate than controls

nervous system

nervous system phenotype ( J:81773 )

N • no abnormalities were detected in brain morphology

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leigh disease		DOID:3652	OMIM:256000	J:81773