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Ephb6/Trpv6tm1.1Mfre
Targeted Allele Detail
Summary
Symbol: Ephb6/Trpv6tm1.1Mfre
Name: transient receptor potential cation channel, subfamily V, member 6; targeted mutation 1.1, Marc Freichel
MGI ID: MGI:5430762
Synonyms: Trpv6D541A, Trpv6mt
Gene: Trpv6  Location: Chr6:41597558-41613339 bp, - strand  Genetic Position: Chr6, 19.79 cM, cytoband B2
Alliance: Ephb6/Trpv6tm1.1Mfre page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:185996
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Conditional ready)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsIn the Trpv6 gene, a loxP site was inserted upstream of a modified exon 13 in which nucleotide substitutions (GAT to GCC) result in the amino acid substitution of aspartic acid with alanine at position 581 (p.D581A). An FRT site flanked neomycin resistance gene cassette with a 3' loxP site was inserted downstream of the last exon (15) into intron 16 of the Ephb6 gene on the opposite strand. Subsequent flp-mediated recombination removed the neo cassette, leaving a conditional-ready allele with exons 13-15 of Trpv6, as well as exons 17 and 18 of Ephb6, floxed. (J:185996)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 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 Trpv6 Mutation:  35 strains or lines available
References
Original:  J:185996 Weissgerber P, et al., Male fertility depends on Ca(2)+ absorption by TRPV6 in epididymal epithelia. Sci Signal. 2011;4(171):ra27
All:  5 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
04/23/2024
MGI 6.23
The Jackson Laboratory