Dnm2^tm4.1Ics
Targeted Allele Detail

Summary

• Symbol: Dnm2^tm4.1Ics
• Name: dynamin 2; targeted mutation 4.1, Mouse Clinical Institute
• MGI ID: MGI:7464883
• Synonyms: Dnm2^SL
• Gene: Dnm2 Location: Chr9:21336204-21419055 bp, + strand Genetic Position: Chr9, 7.79 cM
• Alliance: Dnm2^tm4.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:329580
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: Serine codon 619 (TCG) in exon 16 was changed to leucine (CTG) (p.S619L NM_001039520.2:c.1855_1856delTCinsCT) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 15. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is found in some autosomal dominant centronuclear myopathy (ADCNM) patients. (J:329580)

Expression

In Structures Affected by this Mutation:

1 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 Dnm2 Mutation: 100 strains or lines available

References

• Original: J:329580 Massana Munoz X, et al., Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin. JCI Insight. 2020 Sep 17;5(18)
• All: 1 reference(s)