Exons 13-15 which encode amino acids 262-411 and contain the catalytic residue C277 were replaced with a neomycin resistance gene via homologous recombination. This region of the genome was targeted to delete both transmembrane and cytoplasmic forms of the protein. Absence of protein expression in homozygous mutant animals was verified by Western blot analysis of brain, lung, testes, spleen, and Schwann cells. (J:63866)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Intragenic deletion
--
1
--
10

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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