Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Zpld1sprl
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:	Zpld1sprl page

Strain of Origin:

B6.129S4-Ccl2tm1Rol/J

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	26 strains or lines available

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)