Abca12^smsk
Chemically induced Allele Detail

Summary

• Symbol: Abca12^smsk
• Name: ATP-binding cassette, sub-family A member 12; smooth skin
• MGI ID: MGI:6188327
• Synonyms: smsk
• Gene: Abca12 Location: Chr1:71282249-71454069 bp, - strand Genetic Position: Chr1, 35.81 cM
• Alliance: Abca12^smsk page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Applicable)
• Mutations: Intragenic deletion, Single point mutation
• Mutation details: ENU mutagenesis induced a mutation in a 5' splice donor site in intron 29 that causes a thymine to guanine transversion at the second nucleotide of the downstream intron and converts the consensus donor sequence AGGT to AGGG. Analysis and sequencing of the transcript confirmed the deletion of exon 29. The skipping of exon 29 is predicted to result in an in-frame deletion of 73 amino acids resulting in a truncated protein lacking a critical part of the first ATP binding cassette beginning at amino acid 1388. (J:262458)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Abca12 Mutation: 131 strains or lines available

References

• Original: J:262458 Zhang L, et al., Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. PLoS One. 2016;11(8):e0161465
• All: 1 reference(s)