Zpld1^sprl
Spontaneous Allele Detail

Summary

• Symbol: Zpld1^sprl
• Name: zona pellucida like domain containing 1; spiral
• MGI ID: MGI:6356635
• Gene: Zpld1 Location: Chr16:55045538-55118349 bp, - strand Genetic Position: Chr16, 33.65 cM
• Alliance: Zpld1^sprl page

Mutation origin

• Strain of Origin: B6.129S4-Ccl2^tm1Rol/J

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: A single C-to-T point mutation in exon 10 changing a CAG codon to TAG introducing a stop codon in place of a glutamine at amino acid 322 (p.Q322*), which is just after the furin cleavage site and eliminates the C-terminal region of the protein including the transmembrane domain. (J:278455)
• Inheritance: Recessive

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Zpld1 Mutation: 25 strains or lines available

References

• Original: J:278455 Vijayakumar S, et al., Spontaneous mutations of the Zpld1 gene in mice cause semicircular canal dysfunction but do not impair gravity receptor or hearing functions. Sci Rep. 2019 Aug 27;9(1):12430
• All: 1 reference(s)