Ehd1^{tm1b(EUCOMM)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Ehd1^{tm1b(EUCOMM)Wtsi}
• Name: EH-domain containing 1; targeted mutation 1b, Wellcome Trust Sanger Institute
• MGI ID: MGI:7516137
• Gene: Ehd1 Location: Chr19:6326926-6350126 bp, + strand Genetic Position: Chr19, 4.4 cM
• Alliance: Ehd1^{tm1b(EUCOMM)Wtsi} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:338824
• Parent Cell Line: JM8.F6 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The L1L2_Bact_P cassette was inserted at position 6330789 of Chromosome 19 upstream of the critical exon 2 (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon 2 at position 6331576. The critical exon 2 is thus flanked by loxP sites. Cre-mediated recombination deleted exon 2 and generated a reporter knockout mouse. (J:338824)

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 Ehd1 Mutation: 39 strains or lines available

References

• Original: J:338824 Issler N, et al., A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. J Am Soc Nephrol. 2022 Apr;33(4):732-745
• All: 1 reference(s)