|
|
| Nomenclature |
|
Symbol:
|
Fbn1tm1.2Lysa
|
|
Name:
|
fibrillin 1;
targeted mutation 1.2, Lynn Y Sakai
|
|
MGI ID: |
MGI:4839045 |
|
Synonyms: |
GT8 |
|
Gene:
|
Fbn1
Location:
Chr2:125300594-125507993 bp, - strand
Genetic Position: Chr2,
61.38 cM, cytoband F
|
|
Fragmentation of aortic root elastic lamellae in Fbn1tm1.2Lysa/Fbn1+ mice
Show the 2 image(s) involving this allele.
|
 |
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:165897
|
|
Parent Cell Line:
| Bruce 4 (ES Cell) |
|
Strain of Origin:
|
B6.Cg-Thy1a
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (Reporter) |
|
Mutations: | |
Inversion, Insertion |
| |
|
Mutation details: A lox66 site was inserted upstream of exon 3. The following vector was inserted into intron 34 (5' through 3'): eGFP, exon 33 splice acceptor site, lox77 site, and FRT flanked neo cassette. Flp mediated recombination removed the neo cassette. Cre mediated recombination inverted the region between lox66 and lox77, bringing eGFP into frame after exon 32. The predicted product is truncated after the 17th calcium-binding epidermal growth factor-like domain (cbEGF17) and called GT8 ("green truncated" from founder mouse 8). (J:165897)
|
|
Phenotypes
|
View phenotypes 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 Fbn1 Mutation:
|
4 strains or lines available |
|
| References |
|
Original: |
J:165897
Charbonneau NL et al.,
"In vivo studies of mutant fibrillin-1 microfibrils."
J Biol Chem 2010 Aug 6;285(32):24943-55
|
|
All: |
1 reference(s)
|
|
Analysis Tools
