A construct containing a nonsense mutation at cysteine codon 199 was inserted at the endogenous locus via homologous recombination. Termination of translation after glycine 198 putatively precludes autoproteolytic activity and the associated process in which a cholesterol, involved in cell surface tethering, is attached to glycine 198. (J:69771)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Single point
--
1
18
2

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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