Sack1h^tm2.1Jpsi
Targeted Allele Detail

Summary

• Symbol: Sack1h^tm2.1Jpsi
• Name: scaffolding CK1 anchoring protein H; targeted mutation 2.1, James P Simmer
• MGI ID: MGI:8434340
• Synonyms: Fam83h^Tr
• Gene: Sack1h Location: Chr15:75872942-75886185 bp, - strand Genetic Position: Chr15, 35.22 cM
• Alliance: Sack1h^tm2.1Jpsi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:289590
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details:

  The following construct was inserted into intron 4: an FRT site flanked neomycin resistance gene cassette with splice donor site sequences, a loxP site, a mini-gine in reverse orientation consisting of cDNA for exons 4 and the 5" end of exon 5 (up to a generated premature TAG stop codon (p.Y297*)) plus poly(A) signal sequences, a lox2272 site, and a second loxP site. Another lox2272 site was inserted into intron 3. After a two-stage Cre-mediated recombination event, endogenous exon 4, the neo cassette, and the mini-gene were inverted (through lox2272 recombination) and the neo cassette and inverted endogenous exon 4 deleted (through loxP recombination). Thus, this allele expresses the truncated form of the encoded protein, which is the equivalent of the same human mutation associated with autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI). Mice carrying this allele display enamel defects in molars and incisors. (J:289590)

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 Sack1h Mutation: 50 strains or lines available

References

• Original: J:289590 Wang SK, et al., The Enamel Phenotype in Homozygous Fam83h Truncation Mice. Mol Genet Genomic Med. 2019 Jun;7(6):e724
• All: 1 reference(s)