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Allele : Smcr8<em2Btlr> Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); endonuclease-mediated mutation 2, Bruce Beutler

Primary Identifier  MGI:6272388 Allele Type  Endonuclease-mediated
Attribute String  Not Specified Gene  Smcr8
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  The CRISPR/Cas9 system and sgRNA 5'-GATCAGCGCCCCTGATGTGG-3' was used. Mice contain three separate point mutations on chromosome 11: 60,778,032 (T>C), 60,778,048 (G>A), and 60,778,078 (G>A). The first mutation results in an isoleucine-to-threonine change in amino acid 2 (p.I2T) of the SMCR8 protein while the latter two are silent and result in no coding changes.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Smcr8<I2T>,
  • Smcr8<I2T>
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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