MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology. [provided by MGI curators]
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Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cep290 |
C |
T |
10: 100,500,205 |
T375M |
probably damaging |
Het |
Col1a2 |
A |
T |
6: 4,520,258 |
R348* |
probably null |
Het |
Dph6 |
A |
T |
2: 114,644,778 |
Y85* |
probably null |
Het |
Etl4 |
C |
T |
2: 20,530,087 |
H118Y |
probably damaging |
Het |
Gprc5b |
A |
G |
7: 118,983,986 |
F220S |
possibly damaging |
Het |
Larp4 |
A |
G |
15: 99,996,488 |
T213A |
probably damaging |
Het |
Mfn1 |
T |
C |
3: 32,563,366 |
|
probably benign |
Het |
Myo5a |
T |
C |
9: 75,156,249 |
V579A |
probably benign |
Het |
Nol11 |
T |
C |
11: 107,186,869 |
I65M |
probably damaging |
Het |
Olfr267 |
A |
T |
4: 58,785,047 |
L225Q |
probably damaging |
Het |
Pcdh18 |
T |
C |
3: 49,753,533 |
|
probably benign |
Het |
Prss30 |
T |
C |
17: 23,975,132 |
T17A |
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,067,982 |
L399P |
probably damaging |
Het |
Slc44a2 |
T |
C |
9: 21,345,947 |
V396A |
probably benign |
Het |
Tns3 |
A |
G |
11: 8,492,798 |
S522P |
probably damaging |
Het |
Vmn2r94 |
A |
T |
17: 18,253,312 |
V484E |
possibly damaging |
Het |
Zfp871 |
T |
A |
17: 32,775,644 |
T167S |
probably benign |
Het |
Zmat3 |
C |
T |
3: 32,341,531 |
E276K |
probably damaging |
Het |
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