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Allele : Disc1<tm1Kara> disrupted in schizophrenia 1; targeted mutation 1, Maria Karayiorgou

Primary Identifier  MGI:3623218 Allele Type  Targeted
Attribute String  Null/knockout Gene  Disc1
Transmission  Germline Strain of Origin  129S6/SvEvTac
Is Recombinase  false Is Wild Type  false
molecularNote  A targeting vector was designed using the self-excisable pACN cassette. The vector contained a neomycin resistance gene cassette and a bovine growth hormone polyA sequence, plus a stop codon at the end of exon 8. The neo cassette was excised upon germ-line transmission, leaving the stop codon in exon 8. However, there is a 129S6/SvEvTac-specific 25 bp deletion (Disc1del) in exon 6 and the resultant premature termination in exon 7 takes precedence over and overrides the effect of the artificial premature termination codon in the adjacent exon 8. RT-PCR confirmed the truncated transcript from mutant brain. It was unclear if protein was created as a prominent ~62 kDa signal may have masked the ~58 kDa mutant protein. However, the results of protein analysis in Western blots from brain extracts were consistent with truncation in exon 7.
  • mutations:
  • Insertion,
  • Intragenic deletion
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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

17 Publication categories

Trail: Allele