Point mutations were introduced into the genomic sequence so that the encoded protein contained phenylalanine in place of tyrosine at amino acid positions 196, 306, 349 and 392, and disrupted the binding site for Grb2. A loxP-flanked neomycin resistance cassette was inserted into the fourth intron. Mice bearing this mutant allele were crossed to mice expressing Cre recombinase to delete the neo cassette in the germline. Immunoblot analysis demonstrated similar levels of expression of mutant and wild-type protein in homozygous mutant and wild-type mice, respectively. (J:94724)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
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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