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Mbtps1m2Btlr
Chemically induced Allele Detail
Summary
Symbol: Mbtps1m2Btlr
Name: membrane-bound transcription factor peptidase, site 1; mutation 2, Bruce Beutler
MGI ID: MGI:6304283
Synonyms: muskrat
Gene: Mbtps1  Location: Chr8:120234895-120285474 bp, - strand  Genetic Position: Chr8, 67.85 cM, cytoband E1
Alliance: Mbtps1m2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced C to T transition at base pair 119,538,137 (v38) on chromosome 8, or base pair 20,689 in the GenBank genomic region NC_000074. The mutation corresponds to residue 1,609 in the mRNA sequence NM_019709 within exon 9 of 24 total exons. The mutation results in a proline to serine substitution at position 341 (P341S) in the Site 1 protease (S1P) protein. (J:274663)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Mbtps1 Mutation:  73 strains or lines available
Notes
https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3999
References
Original:  J:274663 Arnold A, et al., Mutagenetix entry for muskrat. MGI Direct Data Submission. 2019;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory