Missense mutations were incorporated into the LFPWMR motif using a hit and run gene targeting technique. The codons encoding proline and tryptophan were mutated to encode valine and tyrosine, respectively (CCC(P) to GTA(V) and TGG(W) to TAC(Y)). Western blot analysis of fibroblast extracts the level of mutant protein in homozygous cells to be similar to that of normal protein in wild-type cells. (J:86684)

Basic Information

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