Mbtps1^wrt
Chemically induced Allele Detail

Summary

• Symbol: Mbtps1^wrt
• Name: membrane-bound transcription factor peptidase, site 1; woodrat
• MGI ID: MGI:3652524
• Synonyms: Mbtps1^m1Btlr, Mbtps1^wr
• Gene: Mbtps1 Location: Chr8:120234895-120285474 bp, - strand Genetic Position: Chr8, 67.85 cM, cytoband E1
• Alliance: Mbtps1^wrt page

The Mbtps1^wrt/Mbtps1^wrt coat color phenotype at 4 months postpartum

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: A single missense mutation was found in exon 13 of the 24-exon gene locus (GenBank accession no. NM_01970). The mutation was an A-to-G transition at nucleotide 2041, predicting the amino acid substitution cysteine for tyrosine (Y496C). This mutation occurs on the C-terminal side of the protease domain. Allelic complementation assays suggest the activity of this hypomorph allele is less than half that of the wild-type allele. (J:94077, J:123123)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Mbtps1 Mutation: 73 strains or lines available

Notes

Genbank ID for mutant sequence: DQ913734

References

• Original: J:146454 Brandl K, et al., Enhanced sensitivity to DSS colitis caused by a hypomorphic Mbtps1 mutation disrupting the ATF6-driven unfolded protein response. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3300-5
• All: 4 reference(s)