|Institutional Source||Beutler Lab|
|Gene Name||MAM domain containing glycosylphosphatidylinositol anchor 1|
|Essential gene?||Possibly non essential (E-score: 0.276)|
|Stock #||R8864 (G1)|
|Chromosomal Location||29827956-29970087 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 29931321 bp (GRCm38)|
|Amino Acid Change||Serine to Glycine at position 106 (S106G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130395 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000167190]|
AA Change: S106G
AA Change: S106G
|Meta Mutation Damage Score||0.0852|
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuronal migration during corticogenesis that is resolved by P7 [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mdga1||
(F):5'- AGTGTATGGCCTAGCATCTCC -3'
(R):5'- TGAAGTCCTGTCGATATCTGTC -3'
(F):5'- AGCATCTCCCCATTTCAGGTTAGAAG -3'
(R):5'- AAGTCCTGTCGATATCTGTCTTGGC -3'