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Phenotypes Associated with This Genotype
Genotype
MGI:2651426
Allelic
Composition
Surf1tm1Zev/Surf1tm1Zev
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Surf1tm1Zev mutation (0 available); any Surf1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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; males surviving to birth exhibited a partial lethality from 2 days to 2 months of age
• 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

embryo
• 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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory