About   Help   FAQ
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
Loading...
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory