Primary Identifier | MGI:1856997 | Allele Type | Spontaneous |
Gene | Tbce | Inheritance Mode | Recessive |
Strain of Origin | NMRI/Pan | Is Recombinase | false |
Is Wild Type | false |
description | This mutation was identified in 1988 at the Panum Institute in Copenhagen. |
molecularNote | The mutation has been identified as T-to-G transversion, resulting in a p.Trp524Gly amino acid substitution in the encoded protein. Northern analysis detected no difference in transcript levels between mutant and wild-type mice. That the mutation was due a defect in Tbce was demonstrated through complementation with a line expressing a Tbce transgene. |