Exon 56 was replaced with one containing nucleotide substitutions that result in the amino acid substitution of aspartic acid for serine at position 2814 (S2814D). This mutation produces a constitutively active protein. The modified exon was followed by a floxed neo cassette that was removed by subsequent cre-mediated recombination. (J:179475)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Insertion, Nucleotide substitutions
--
1
8
8

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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