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Allele : Btk<vila> Bruton agammaglobulinemia tyrosine kinase; vila

Primary Identifier  MGI:4820731 Allele Type  Chemically induced (ENU)
Gene  Btk Inheritance Mode  Other (see notes)
Strain of Origin  C57BL/6JAnu Is Recombinase  false
Is Wild Type  false Project Collection  APF ENU Mutagenesis
description  The mutant phenotype is observed in hemizygous male mice and is recessively inherited in female mice. (J:104190)
molecularNote  The mutation has been identified as a C to T transition at nucleotide position 722 of the cDNA sequence (ENSMUST00000113214), which replaces the triplet encoding glutamine at amino acid (aa) position 196 of the 659 aa protein with a stop codon (Q196Ter).
  • mutations:
  • Single point mutation
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele