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Allele : Hmbs<tm2.1Rjde> hydroxymethylbilane synthase; targeted mutation 2.1, Robert J Desnick

Primary Identifier  MGI:6393999 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Hmbs
Transmission  Germline Strain of Origin  129/Sv x C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  A GC to AG change at position 518-519 resulting in an arginine to glutamine substitution at amino acid 173 (R173Q) was introduced in exon 10 and a loxP-flanked neomycin cassette was inserted in intron 9. The neomycin selection cassette was removed via cre-mediated recombination. This is a mutation found in human dominant acute intermittent porphyria.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • R173Q,
  • R173Q
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories

Trail: Allele