Marveld2^tm1.1Sria
Targeted Allele Detail

Summary

• Symbol: Marveld2^tm1.1Sria
• Name: MARVEL (membrane-associating) domain containing 2; targeted mutation 1.1, Saima Riazuddin
• MGI ID: MGI:5550095
• Synonyms: Tric^R497X
• Gene: Marveld2 Location: Chr13:100732465-100753479 bp, - strand Genetic Position: Chr13, 53.23 cM
• Alliance: Marveld2^tm1.1Sria page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:201580
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: 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. (J:201580)

Disease models

Expression

In Structures Affected by this Mutation:

12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Marveld2 Mutation: 30 strains or lines available

References

• Original: J:201580 Nayak G, et al., Tricellulin deficiency affects tight junction architecture and cochlear hair cells. J Clin Invest. 2013 Sep 3;123(9):4036-49
• All: 1 reference(s)