|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family A (ABC1), member 4|
|Synonyms||D430003I15Rik, Abc10, Rim protein, RmP|
Genbank: NM_007378; MGI: 109424
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5372 (G1)|
|Chromosomal Location||122044443-122180123 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 122055339 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 108 (D108E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000013995 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000013995]|
AA Change: D108E
PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: D108E
|Meta Mutation Damage Score||0.3226|
|Coding Region Coverage||
|Validation Efficiency||96% (89/93)|
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration. [provided by MGI curators]
|Allele List at MGI||
All alleles(8) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(4)
|Other mutations in this stock||
|Other mutations in Abca4||
(F):5'- TGCCCCAAATTGAATTCTGAGC -3'
(R):5'- CTTGACGCTAGAGGCAAGTAC -3'
(F):5'- CATCATCTCTGTCAGTGTTAGAATC -3'
(R):5'- TACAGAATGGGAACGCCGACAC -3'