Phenotypes associated with this allele

• Allele Symbol: Surf1^tm2.1Zev
• Allele Name: targeted mutation 2.1, Massimo Zeviani
• Allele ID: MGI:3698400
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Surf1^tm2.1Zev/Surf1^tm2.1Zev	involves: 129S7/SvEvBrd * C57BL/6 * DBA/2	MGI:3698949

Genotype
MGI:3698949

hm1

• Allelic Composition: Surf1^tm2.1Zev/Surf1^tm2.1Zev
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

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

mortality/aging

extended life span ( J:117871 )

• mutants show extended survival vs control value

• median survival is 793 days compared to 654 days reported for control laboratory mice

growth/size/body

abnormal fetal size ( J:117871 )

• newborns are significantly smaller than littermates, but difference progressively disappears after weaning

nervous system

decreased susceptibility to neuronal excitotoxicity ( J:117871 )

• after seizure induction by kainic acid injection, no CA1 and CA3 hippocampal cells damaged by Ca²⁺ excitotoxicity are detected in mutants compared to damage detected in these regions in all control mice

• in cultured cortical/hippocampal neurons, glutamate treatment to increase Ca²⁺ to levels resulting in cell death causes less neuronal cell death in mutant neurons compared to wild-type cells

behavior/neurological

impaired coordination ( J:117871 )

• at 2 months of age, mutants show mildly decreased motor coordination based on rotating rod trials

homeostasis/metabolism

decreased susceptibility to neuronal excitotoxicity ( J:117871 )

• after seizure induction by kainic acid injection, no CA1 and CA3 hippocampal cells damaged by Ca²⁺ excitotoxicity are detected in mutants compared to damage detected in these regions in all control mice

• in cultured cortical/hippocampal neurons, glutamate treatment to increase Ca²⁺ to levels resulting in cell death causes less neuronal cell death in mutant neurons compared to wild-type cells

abnormal enzyme/coenzyme activity ( J:117871 )

• cytochrome C oxidase (COX) and intermediates are found at lower levels than in wild-type tissues

cellular

decreased susceptibility to neuronal excitotoxicity ( J:117871 )

• after seizure induction by kainic acid injection, no CA1 and CA3 hippocampal cells damaged by Ca²⁺ excitotoxicity are detected in mutants compared to damage detected in these regions in all control mice

• in cultured cortical/hippocampal neurons, glutamate treatment to increase Ca²⁺ to levels resulting in cell death causes less neuronal cell death in mutant neurons compared to wild-type cells

abnormal mitochondrial physiology ( J:117871 )

• Ca²⁺ uptake by mutant mitochondria is reduced compared to controls without changing mitochondrial structure or membrane potential