Allele/Variant

Ctssm1Btlr

Species
Mus musculus
Symbol
Ctssm1Btlr
Category
allele
Allele of gene
Ctss
Transgenic Constructs
None
Synonyms
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Description
ENU-induced C to T transition at base pair 95,545,384 (v38) on chromosome 3, or base pair 18,599 in the GenBank genomic region NC_000069 encoding Ctss. The mutation corresponds to residue 592 in the mRNA sequence NM_001267695 within exon 5 of 8 total exons and to residue 589 in the mRNA sequence NM_021281 within exon 5 of 8 total exons. The mutated nucleotide is indicated in red. The mutation results in substitution of glutamine 160 to a premature stop codon (Q160*) in variant 1 and Q159* in variant 2 of the CTSS protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
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