Exon 1 encoding the signal peptide was replaced with a neomycin resistance gene via homologous recombination. Southern blot analysis revealed several copies of the targeting vector had integrated as a concatemer in a head-to-tail manner. Western blot analysis of peripheral nerve proteins from homozygous mutant animals confirmed the absence of gene expression. The null allele was further verified by immunohistochemical analysis of femoral nerve sections from homozygous mutant animals using a polyclonal antibody to the protein. No immunoreactive staining was observed. (J:3234)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1+
Targeted
Insertion, Intragenic deletion
--
1
13
49

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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