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EN
This mutation was discovered in an in vivo screen of G3 progeny of an ENU mutagenized male mouse for natural killer cell and CD8+ cytotoxicity. It comprises a T to C transition at nucleotide position 1086 (Genbank Accession NM_010693), in the eighth of the gene's 12 exons, resulting in replacement of leucine by proline at amino acid position 300 of the protein (L300P). (J:144695)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
