Primary Identifier | MGI:6113401 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Pax5 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU-induced A to T transversion at base pair 44,679,494 (v38) on chromosome 4, or base pair 30,947 in the GenBank genomic region NC_000070. The mutation corresponds to residue 582 in the mRNA sequence NM_008782 within exon 5 of 10 total exons and to residue 284 in the cDNA sequence ENSMUST00000186542.1 within exon 3 of 3 total exons. The mutated nucleotide is indicated in red. The mutation results in a histidine (H) to leucine (L) substitution at position 95 (H95L) in the protein encoded by the ENSMUST00000186542.1 cDNA transcript and a isoleucine (I) to phenylalanine substitution at position 184 in the protein encoded by the NM_008782 mRNA transcript. |