Exon 2 was replaced with a modified exon 2 in which the 93 bp coding for the SRP-binding and ER transmembrane anchor/stop transfer sequence was removed and Ala32 was replaced with a methionine (A32M). A floxed neo cassette inserted upstream of the modified exon was removed by cre mediated recombination. The product is predicted to undergo mitochondrial truncated targeting. (J:163973)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Intragenic deletion, Nucleotide substitutions
--
1
--
2

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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