ENU-induced C to T transition at base pair 171,158,810 (v38) on chromosome 1, or base pair 8,098 in the GenBank genomic region NC_000067 encoding Mpz. The mutation corresponds to residue 458 in the NM_008623 mRNA sequence in exon 5 of 8 total exons. The mutation results in an arginine (R) to cysteine (C) substitution at position 98 (R98C) in both variants of the MPZ protein. (J:265100)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
13
--

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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