Mouse Genome Informatics
hm1
    Surf1tm1Zev/Surf1tm1Zev
involves: 129S7/SvEvBrd * C57BL/6J * DBA/2
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• incomplete penetrance; males surviving to birth exhibited a partial lethality from 2 days to 2 months of age
• after variable periods of time, animals exhibited a rapid onset of polypnea, hypoactivity and weight loss followed by death less than 24 hours later
• incomplete penetrance; partial lethality noted beginning at E6.5 and by E18.5 only 2% of surviving embryos are homozygous

behavior/neurological
• homozygous animals exhibited a reduced performance on the Rotarod test compared to controls
• homozygous animals exhibited a reduced performance in a grip strength test compared to controls

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

embryogenesis
• homozygous embryos are smaller than littermates

growth/size/body
• homozygous embryos are smaller than littermates
• homozygous animals are one half the weight of controls
• homozygous animals are one half the length of controls

limbs/digits/tail
• incomplete penetrance; observed in 10 homozygous mice

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

nervous system
N
• no abnormalities were detected in brain morphology (J:81773)

Mouse Models of Human Disease
OMIM IDRef(s)
Leigh Syndrome; LS 256000 J:81773


Mouse Genome Informatics
cx2
    Surf1tm1Zev/Surf1tm1Zev
Tg(Ckm-Ppargc1a)31Brsp/0

involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cellular
• mitochondria in muscle cells exhibit increased cellular respiration compared with wild-type cells
• muscle cells contain increased mitochondrial DNA compared with control cells