Single nucleotide change was introduced to the endogenous gene by homologous recombination. The floxed neo selection cassette was introduced into intronic sequence and removed by subsequent cross with cre expressing mice. The mutation represent W93C disease causing mutation of the gene in human. (J:157645)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv
Targeted
Insertion, Intragenic deletion, Single point
--
1
14
1

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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