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Targeted Allele Detail
Symbol: Mbtps1tm1Jdh
Name: membrane-bound transcription factor peptidase, site 1; targeted mutation 1, Jay D Horton
MGI ID: MGI:2156484
Synonyms: S1Pf
Gene: Mbtps1  Location: Chr8:119508156-119558761 bp, - strand  Genetic Position: Chr8, 67.85 cM, cytoband E1
Severe chondrodysplasia in Mbtps1tm1Jdh/Mbtps1tm1Jdh Tg(Col2a1-cre)1Bhr/0 mice

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

Germline Transmission:  Earliest citation of germline transmission: J:72930
Parent Cell Line:  SM1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
Mutation detailsA loxP site was inserted into intron 1 and a loxP-flanked neomycin selection cassette was inserted into exon 2. (J:72930)
View phenotypes for all genotypes (concatenated display).
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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:  40 strains or lines available
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:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.03
The Jackson Laboratory