Fbn2^fp-2J
Spontaneous Allele Detail

Summary

• Symbol: Fbn2^fp-2J
• Name: fibrillin 2; fused phalanges 2 Jackson
• MGI ID: MGI:1935122
• Synonyms: fp-2J, sy^fp-2J
• Gene: Fbn2 Location: Chr18:58141689-58343200 bp, - strand Genetic Position: Chr18, 32.15 cM, cytoband D-E1
• Alliance: Fbn2^fp-2J page

Mutation origin

• Strain of Origin: C.B10-H2^b/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

Disease models

Expression

In Mice Carrying this Mutation:	10 assay results
In Structures Affected by this Mutation:	1 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 Fbn2 Mutation: 142 strains or lines available

References

• Original: J:51131 Sweet HO, A remutation to fused phalanges. Mouse Genome. 1996;94:487
• All: 3 reference(s)