Dzip1^em1Sasl
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dzip1^em1Sasl
• Name: DAZ interacting protein 1; endonuclease-mediated mutation 1, Susan Slaugenhaupt
• MGI ID: MGI:6718494
• Synonyms: Dzip1^Ser24Arg
• Gene: Dzip1 Location: Chr14:119112932-119162872 bp, - strand Genetic Position: Chr14, 62.56 cM, cytoband E4
• Alliance: Dzip1^em1Sasl page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting produced a point mutation (C to G) that produces the amino acid substitution of serine with argenine at position 14 (S14R). A silent mutation (C to T) created an Aat I restriction site to facilitate genotyping. (J:291454)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Dzip1 Mutation: 38 strains or lines available

References

• Original: J:291454 Toomer KA, et al., Primary cilia defects causing mitral valve prolapse. Sci Transl Med. 2019 May 22;11(493)
• All: 2 reference(s)