A neomycin resistance cassette replaced part of an exon of the gene that corresponds to amino acids 114 to 230 in the reported human sequence, and an adjacent intron. Northern analysis using a murine cDNA probe did not detect transcript in cultured keratinocytes from homozygous mutant mice. Immunoprecipitation studies using antiserum raised against the cytoplasmic domain of human did not detect protein in lysates of cultured keratinocytes from homozygous mutant mice. (J:59991)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion, Intragenic deletion
--
1
--
24

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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