Primary Identifier | MGI:5691954 | Allele Type | Chemically induced (ENU) |
Attribute String | Null/knockout | Gene | Grid2 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
description | https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=1607 |
molecularNote | T to A transversion at base pair 64,429,694 (v38) on chromosome 6, or base pair 1,173,792 in the GenBank genomic region NC_000072 encoding Grid2. The mutation corresponds to residue 2,037 (c.2037T>A) in the NM_008167.3 mRNA sequence in exon 13 of 16 total exons. The mutation results in substitution of tyrosine 679 for a premature stop codon (p.Y679*) in the GluRdelta2 protein. |