|
|
| Nomenclature |
|
Symbol:
|
Fbn2fp-2J
|
|
Name:
|
fibrillin 2;
fused phalanges 2 Jackson
|
|
MGI ID: |
MGI:1935122 |
|
Synonyms: |
fp-2J, syfp-2J |
|
Gene:
|
Fbn2
Location:
Chr18:58008623-58209926 bp, - strand
Genetic Position: Chr18,
32.15 cM, cytoband D-E1
|
|
Mutation origin |
|
Strain of Origin:
|
C.B10-H2b/LeMcdJ
|
|
Mutation description |
|
Allele
Type: | |
Spontaneous |
|
Mutation: | |
Intragenic deletion |
| |
|
Mutation details: This mutation consists of a 21 nucleotide deletion in the Fbn2 gene that removes that last 7 nucleotides of exon 38 and 14 nucleotides of intron 38, including the splice donor sequence. The mutation results in the aberrant skipping of exon 38. (J:68881)
|
|
Inheritance: | |
Recessive |
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| References |
|
Original: |
J:51131
Sweet HO,
"A remutation to fused phalanges"
Mouse Genome 1996;94():487
|
|
All: |
3 reference(s)
|
|