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Allele : Marveld2<tm1.1Sria> MARVEL (membrane-associating) domain containing 2; targeted mutation 1.1, Saima Riazuddin

Primary Identifier  MGI:5550095 Allele Type  Targeted
Attribute String  Humanized sequence, Modified isoform(s) Gene  Marveld2
Transmission  Germline Strain of Origin  129X1/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  An FRT flanked neo cassette and loxP site were inserted in front of exon 5, an R497X mutation was inserted in exon 6 and a loxP site was inserted downstream of exon 6 via homologous recombination. Flp mediated recombination removed the neo cassette. RT-PCR analysis indicates an upregulation of the Marveld2-d (lacking exon 4) and Marveld2-e (alternative splice of exon 6) splice variants in the inner ear of homozygous mice at P10. Western blot analysis failed to detect wild-type protein in inner ear lysates from P10 homozygous mice.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Tric<R497X>,
  • Tric<R497X>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories