Fbn2^fp-4J
Spontaneous Allele Detail

Summary

• Symbol: Fbn2^fp-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: Fbn2^fp-4J page

Mutation origin

• Strain of Origin: CByJ.CBy-Map7^mshi/J

Mutation description

• 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

Disease models

Expression

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