Nf1^Mhdadsk9
Chemically induced Allele Detail

Summary

• Symbol: Nf1^Mhdadsk9
• Name: neurofibromin 1; Martin Hrabe de Angelis dark skin 9
• MGI ID: MGI:2682223
• Synonyms: dark skin 9, Dsk9, Nf1^Dsk9
• Gene: Nf1 Location: Chr11:79230519-79472438 bp, + strand Genetic Position: Chr11, 46.74 cM, cytoband B4-5
• Alliance: Nf1^Mhdadsk9 page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The molecular mutation is a T-to-A single nucleotide substitution in exon 33. This mutation is predicted to result in an asparagine 1453 in the C-terminal end of the GTPase-activating protein-related domain (GRD) to be replaced with lysine (N1453K). (J:196495)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

9 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 Nf1 Mutation: 161 strains or lines available

References

• Original: J:81301 Fitch KR, et al., Genetics of dark skin in mice. Genes Dev. 2003 Jan 15;17(2):214-28
• All: 4 reference(s)