A point mutation was introduced into exon 3 causing an asparagine to serine substitution at amino acid 111 (N111S). A C-terminal deletion of the coding region was also introduced at position 329. A hygro cassette flanked by loxP sites was introduced into 3' UTR of exon 3. Homozygous mice had normal expression of the gene as determined by quantitative RT PCR of several tissues. (J:124206)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Nucleotide substitutions
--
1
2
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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