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Allele : Borcs7<Q87X> BLOC-1 related complex subunit 7; Q87X

Primary Identifier  MGI:6281438 Allele Type  Spontaneous
Attribute String  Not Specified Gene  Borcs7
Inheritance Mode  Recessive Strain of Origin  129S6/SvEvTac or C57BL/6 or DBA/2
Is Recombinase  false Is Wild Type  false
molecularNote  A spontaneous C-to-T mutation was identified that is a single base pair substitution in exon 4 generating a nonsense mutation in which the glutamine at amino acid 87 is mutated to a premature stop codon (Q87X) and results in a truncated protein lacking 18 amino acids at its C terminus. The mutation occurred spontaneously on a mixed background consisting of 129S6/SvEvTac, C57BL/6 and DBA/2.
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories