Fbn2<fp-4J> Spontaneous Allele Detail MGI Mouse (MGI:5547954)

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:

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

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

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)

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