Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Fbn2fp Name: fibrillin 2; fused phalanges MGI ID: MGI:1935123 Synonyms: fp, syfp Gene: Fbn2  Location: Chr18:58141689-58343200 bp, - strand  Genetic Position: Chr18, 32.15 cM, cytoband D-E1 Alliance: Fbn2fp page

Limb clasping, reduced grip strength, and syndactyly in Fbn2mz/Fbn2mz, Fbn2fp/Fbn2fp and Fbn2mz/Fbn2fp mice Show the 1 phenotype image(s) involving this allele.

Strain of Origin:

C3HeB/FeHu

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

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	12 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

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

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