Dag1^tm1.1Sabl
Targeted Allele Detail

Summary

• Symbol: Dag1^tm1.1Sabl
• Name: dystroglycan 1; targeted mutation 1.1, Sandra Blaess
• MGI ID: MGI:7664416
• Synonyms: Dag1^C667F
• Gene: Dag1 Location: Chr9:108082060-108141176 bp, - strand Genetic Position: Chr9, 59.08 cM
• Alliance: Dag1^tm1.1Sabl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:350439
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Cysteine codon 667 (TGC) in exon 4 was changed to phenylalanine (TTC) (p.C667F) and a loxP site flanked neomycin resistance gene cassette was insterted into intron 3. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the human c.2006G>T:p.C669F mutation associated with muscle-eye-brain (MEB) disease with multicystic leukodystrophy. (J:350439)

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 Dag1 Mutation: 109 strains or lines available

References

• Original: J:350439 Tan RL, et al., The missense mutation C667F in murine beta-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization. Dis Model Mech. 2024 Jun 1;17(6)
• All: 1 reference(s)