Lama5^tm1.1Mggte
Targeted Allele Detail

Summary

• Symbol: Lama5^tm1.1Mggte
• Name: laminin, alpha 5; targeted mutation 1.1, Teresa Esposito
• MGI ID: MGI:6407118
• Synonyms: Lama5^V3144M
• Gene: Lama5 Location: Chr2:179818166-179867652 bp, - strand Genetic Position: Chr2, 102.7 cM
• Alliance: Lama5^tm1.1Mggte page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:286800
• Parent Cell Line: E14TG2a.4 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A point mutation results in the amino acid substitution of methionine for valine at position 1344. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of the modification. (J:286800)

Expression

In Structures Affected by this Mutation:

6 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 Lama5 Mutation: 153 strains or lines available

References

• Original: J:286800 Sampaolo S, et al., Identification of the First Dominant Mutation of LAMA5 Gene Causing a Complex Multisystem Syndrome Due to Dysfunction of the Extracellular Matrix. J Med Genet. 2017;54(10):710-720
• All: 1 reference(s)