Abca4^tm2.1Kpal
Targeted Allele Detail

Summary

• Symbol: Abca4^tm2.1Kpal
• Name: ATP-binding cassette, sub-family A member 4; targeted mutation 2.1, Krzysztof Palczewski
• MGI ID: MGI:5752222
• Synonyms: Abca4^PV
• Gene: Abca4 Location: Chr3:121838092-121973772 bp, + strand Genetic Position: Chr3, 52.94 cM
• Alliance: Abca4^tm2.1Kpal page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:221141
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129 or C57BL/6

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: In consecutive targeting events an L541P mutation was introduced in exon 12 followed by an A1038V mutation introduced in exon 21. After recombinase mediated removal of selection cassettes a loxP site was left in intron 11 and loxP and FRT sites were left in intron 22. (J:221141)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 Abca4 Mutation: 107 strains or lines available

References

• Original: J:221141 Zhang N, et al., Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. Hum Mol Genet. 2015 Jun 1;24(11):3220-37
• All: 2 reference(s)