Mbtps1^tm1Jdh
Targeted Allele Detail

Summary

• Symbol: Mbtps1^tm1Jdh
• Name: membrane-bound transcription factor peptidase, site 1; targeted mutation 1, Jay D Horton
• MGI ID: MGI:2156484
• Synonyms: S1P^f
• Gene: Mbtps1 Location: Chr8:120234895-120285474 bp, - strand Genetic Position: Chr8, 67.85 cM, cytoband E1
• Alliance: Mbtps1^tm1Jdh page

Severe chondrodysplasia in Mbtps1^tm1Jdh/Mbtps1^tm1Jdh Tg(Col2a1-cre)1Bhr/0 mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:72930
• Parent Cell Line: SM1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A loxP site was inserted into intron 1 and a loxP-flanked neomycin selection cassette was inserted into exon 2. (J:72930)

Disease models

Expression

In Mice Carrying this Mutation:	108 assay results 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	18 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Mbtps1 Mutation: 73 strains or lines available

References

• Original: J:72930 Yang J, et al., Decreased lipid synthesis in livers of mice with disrupted Site-1 protease gene. Proc Natl Acad Sci U S A. 2001 Nov 20;98(24):13607-12
• All: 10 reference(s)