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

Symbol:	Fbn2fp-4J
Name:	fibrillin 2; fused phalanges 4 Jackson
MGI ID:	MGI:5547954
Gene:	Fbn2  Location: Chr18:58141689-58343200 bp, - strand  Genetic Position: Chr18, 32.15 cM, cytoband D-E1
Alliance:	Fbn2fp-4J page

Strain of Origin:

CByJ.CBy-Map7mshi/J

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: This spontaneous A-to-G variant at Chr18: 58,035,907 (GRCm38) (T-to-C on negative gene strand) results in the missense mutation p.S2267P in one transcript of fibrillin 2 and p.S998P in a second transcript. (J:211397, J:222308) Inheritance:    Recessive

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

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:211397 Harris BS, et al., Fused phalanges 4 Jackson: a new spontaneous mutation in Fbn2. MGI Direct Data Submission. 2014;
All:	2 reference(s)