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Fbn2fp-4J
Spontaneous Allele Detail
Nomenclature
Symbol: Fbn2fp-4J
Name: fibrillin 2; fused phalanges 4 Jackson
MGI ID: MGI:5547954
Gene: Fbn2  Location: Chr18:58008623-58210487 bp, - strand  Genetic Position: Chr18, 32.15 cM, cytoband D-E1
Mutation
origin
Strain of Origin:  CByJ.CBy-Map7mshi/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis spontaneous A to G variant at Chr18: 58,195,561 (MGSCv37) is predicted to result in the missense mutation S2267P in one transcript of fibrillin 2 and S998P in a second transcript. (J:211397, J:222308)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  5 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/11/2019
MGI 6.14
The Jackson Laboratory