Krt12^{tm1.1(KRT12*L132P)Arte}
Targeted Allele Detail

Summary

• Symbol: Krt12^{tm1.1(KRT12*L132P)Arte}
• Name: keratin 12; targeted mutation 1.1, TaconicArtemis
• MGI ID: MGI:5902155
• Synonyms: Krt12^hL132P
• Gene: Krt12 Location: Chr11:99306492-99313085 bp, - strand Genetic Position: Chr11, 62.92 cM
• Alliance: Krt12^{tm1.1(KRT12*L132P)Arte} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:229462
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Epitope tag, Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Krt12^{tm1.1(KRT12*L132P)Arte} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  KRT12 (3859)

  Krt12

  (MGI:96687)

  contains L132P substitution

• Mutation details: A transgene consisting of the full human KRT12 gene including introns and containing the Leu132Pro (L132P) mutation in exon 1, an FRT-flanked neomycin resistance gene inserted in intron 2, an F3-flanked puromycin resistance gene inserted into intron 7, a FLAG-HA coding sequence immediately before the termination codon and a multiple targeting cassette (MTC) inserted within the 3'-UTR replaced the mouse Krt12 locus by homologous recombination. The MTC contains about 40 nt including and surrounding the KRT3 mutations c.152G>A (E509K), c.1508G>C (R503P) and C.1493A>T (E498V) and the KRT12 mutations c.395T>C (L132P), c.404G>C (R135T). Flp-mediated recombination excised the selection makers. Western blot analysis confirmed transgene expression. (J:229462)

Disease models

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 Krt12 Mutation: 24 strains or lines available

References

• Original: J:229462 Allen EH, et al., Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy. Hum Mol Genet. 2016 Mar 15;25(6):1176-91
• All: 1 reference(s)