Abca12^el12
Chemically induced Allele Detail

Summary

• Symbol: Abca12^el12
• Name: ATP-binding cassette, sub-family A member 12; embryonic lethal 12
• MGI ID: MGI:4461044
• Synonyms: Abca1^G1997D
• Gene: Abca12 Location: Chr1:71282249-71454069 bp, - strand Genetic Position: Chr1, 35.81 cM
• Alliance: Abca12^el12 page

Mutation origin

• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a G to A transition in exon 41 resulting in the amino acid substitution of aspartic acid for glycine at position 1997 (G1997D). (J:161652)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

5 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:161652 Smyth I, et al., A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis. PLoS Genet. 2008;4(9):e1000192
• All: 2 reference(s)