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Marveld2tm1.1Sria
Targeted Allele Detail
Summary
Symbol: Marveld2tm1.1Sria
Name: MARVEL (membrane-associating) domain containing 2; targeted mutation 1.1, Saima Riazuddin
MGI ID: MGI:5550095
Synonyms: TricR497X
Gene: Marveld2  Location: Chr13:100732465-100753479 bp, - strand  Genetic Position: Chr13, 53.23 cM
Alliance: Marveld2tm1.1Sria 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 detailsAn 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  29 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory