A T to C transition in codon 919, the equivalent codon to human 918, resulted in a protein which encoded threonine instead of methionine at this position. This mutation corresponds to mutations in human codon 918 commonly found in humans with multiple endocrine neoplasia type 2 (MEN2). Silent mutations in codons 920 and 921 abolished a MunI endonuclease site. An adjacent loxP flanked neomycin cassette was removed by crossing mice carrying Rettm2Cos to mice expressing Cre under the control of a Beta-actin promoter. (J:60659)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Single point
--
1
23
11

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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