ENU-induced C to T transition at base pair 86,476,851 (v38) on chromosome 17, or base pair 309,298 in the GenBank genomic region NC_000083 encoding Prkce. The mutation corresponds to residue 1,461 in the mRNA sequence NM_011104 within exon 5 of 15 total exons. The mutation results in a threonine (T) to isoleucine (I) substitution at position 218 (T218I) in the PKC protein. (J:267703)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
--
--

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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