Fbn2^fp
Spontaneous Allele Detail

Summary

• Symbol: Fbn2^fp
• Name: fibrillin 2; fused phalanges
• MGI ID: MGI:1935123
• Synonyms: fp, sy^fp
• Gene: Fbn2 Location: Chr18:58141689-58343200 bp, - strand Genetic Position: Chr18, 32.15 cM, cytoband D-E1
• Alliance: Fbn2^fp page

Limb clasping, reduced grip strength, and syndactyly in Fbn2^mz/Fbn2^mz, Fbn2^fp/Fbn2^fp and Fbn2^mz/Fbn2^fp mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C3HeB/FeHu

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: This mutation consists of a single nucleotide deletion in exon 39 in the Fbn2 gene, causing a frameshift of 44 amino acids before the introduction of a stop codon. RT-PCR analysis revealed that less Fbn2 transcript is produced in the fused phalanges mouse than in the parental strain from which it arose. (J:68881)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	12 assay results
In Structures Affected by this Mutation:	2 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: 143 strains or lines available

References

• Original: J:13514 Hummel KP, et al., Fused phalanges. Mouse News Lett. 1971;45:28
• All: 6 reference(s)