A lacZ/neo cassette was inserted in frame after the third codon in exon 1, replacing the remainder of exon 1. Southern blot confirmed recombination in mutant mice. Northern blot indicated a lack of full-length transcript in homozygotes, but presence of a lacZ-containing transcript in homozygotes and heterozygotes. Absence of wild-type protein was demonstrated by an immunohistochemistry assay of sciatic nerves and brain from mutants. (J:92517)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
2
6

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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