Dst^em1Dcr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dst^em1Dcr
• Name: dystonin; endonuclease-mediated mutation 1, Derry C Roopenian
• MGI ID: MGI:7711525
• Gene: Dst Location: Chr1:33947306-34347742 bp, + strand Genetic Position: Chr1, 12.91 cM
• Alliance: Dst^em1Dcr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Nucleotide substitutions
• This G to A point substitution yields a R1226Q change replicating a modifier SNP in 129X1/SvJ (J:352178)
• Inheritance: Recessive

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 Dst Mutation: 557 strains or lines available

References

• Original: J:352178 Sproule TJ, et al., Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum. PLoS One. 2023;18(10):e0293218
• All: 1 reference(s)