Lamb3^tm1.1Hosc
Targeted Allele Detail

Summary

• Symbol: Lamb3^tm1.1Hosc
• Name: laminin, beta 3; targeted mutation 1.1, Holm Schneider
• MGI ID: MGI:5708309
• Synonyms: LAMB3 628G>A
• Gene: Lamb3 Location: Chr1:192976661-193026186 bp, + strand Genetic Position: Chr1, 97.71 cM, cytoband H2-H6
• Alliance: Lamb3^tm1.1Hosc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:218616
• Parent Cell Line: v6.5 (ES Cell)
• Strain of Origin: (C57BL/6 x 129S4/SvJae)F1

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Single point mutation
• Mutation details: A 628G>A mutation was inserted in exon 7 and an FRT flanked neo cassette was introduced in intron 8 via homologous recombination. Flp mediated recombination removed the neo cassette. PCR analysis indicates the production of a shorter transcript with deletion of exon 7 resulting in a frameshift and premaure stop codon (p.V189NfsX8). (J:218616)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Lamb3 Mutation: 62 strains or lines available

References

• Original: J:218616 Hammersen J, et al., A New Mouse Model of Junctional Epidermolysis Bullosa: The LAMB3 628G>A Knockin Mouse. J Invest Dermatol. 2015 Mar;135(3):921-4
• All: 1 reference(s)