Lamc2^tm1Uit
Targeted Allele Detail

Summary

• Symbol: Lamc2^tm1Uit
• Name: laminin, gamma 2; targeted mutation 1, Jouni Uitto
• MGI ID: MGI:2679597
• Synonyms: Lamc2-
• Gene: Lamc2 Location: Chr1:152998502-153062193 bp, - strand Genetic Position: Chr1, 65.26 cM, cytoband H1
• Alliance: Lamc2^tm1Uit page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:85981
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A floxed neomycin resistance gene was inserted in intron 8 and another loxP site was placed in intron 7. Also, frt sites were inserted on either side of exon 9. Transient cre expression in the ES cells removed exon 8 which caused a frame shift and a premature termination codon in exon 9. RT-PCR indicated mRNA of 510bp rather than 623bp. There was also a minor smaller transcript of 291bp. No protein product could be seen immunologically in skin biopsies of homozygous mice. (J:85981)

Disease models

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: 2 strains available Cell Lines: 0 lines available
• Carrying any Lamc2 Mutation: 70 strains or lines available

References

• Original: J:85981 Meng X, et al., Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa. J Invest Dermatol. 2003 Oct;121(4):720-31
• All: 6 reference(s)