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Allele : Pax5<m2Btlr> paired box 5; mutation 2, Bruce Beutler

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.
  • mutations:
  • Single point mutation
  • synonyms:
  • glacier,
  • glacier
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele