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Fbn2mz
Chemically induced Allele Detail
Summary
Symbol: Fbn2mz
Name: fibrillin 2; mariusz
MGI ID: MGI:4438056
Gene: Fbn2  Location: Chr18:58141689-58343200 bp, - strand  Genetic Position: Chr18, 32.15 cM, cytoband D-E1
Alliance: Fbn2mz page
Muscle weakness in Fbn2mz/Fbn2mz mice

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  BALB/cAnNCrl
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a T/A to A/T transversion in exon 14. This mutation replaced a leucine codon with a stop codon creating a truncation to 620 amino acids from 2907. (J:157998)
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: 4 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Fbn2 Mutation:  143 strains or lines available
References
Original:  J:157998 Miller G, et al., ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. PLoS One. 2010;5(2):e9137
All:  1 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
11/12/2024
MGI 6.24
The Jackson Laboratory