A targeting vector was designed to insert a t14693c mutation into exon 102 that results in the amino acid substitution of threonine for isoleucine at position 4895 (I4895T). An additional silent substitution (g14697t) was introduced to aid in genotyping and allele expression studies. A neomycin selection cassette originally inserted in intron 101 was removed by cre mediated recombination. (J:127629)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
26
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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