Codon 1930 in exon 21 was altered from TGC to AGT. This resulted in a substition of cysteine with serine in the encoded protein (p.C1930S). A loxP site flanked neomycin selection cassette that was inserted into intron 21, was removed through Cre-mediated recombination. The mutation renders the protein tyrosine phosphatase catalytic domain inactive. (J:273694)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Nucleotide substitutions
--
1
--
3

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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