The spiral mutation in Zpld1 causes vestibular dysfunction that is limited to the sensory input for rotary head movements but not linear accelerations and does not cause any auditory dysfunction. This allele causes a more severe phenotype than that of the Zpld1cwh mutation and much more severe phenotype than a targeted deletion.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous (Null/Knockout) | Zpld1 | zona pellucida like domain containing 1 |
Approximately half of the mice homozygous for the spiral mutation exhibit hyperactive circling behavior, and all have abnormal vestibulo-ocular reflex, but normal vestibular sensory evoked potential, normal hearing by ABR assessment and histologically normal cochlea, otolithic and vestibular organs. This phenotype is consistent with the fact that ZPLD1 is expressed by cells that synthesize the components of the cupula, the membrane overlying the crista ampullaris of the semicircular canal, which is important for sensing the rotation of the head. The abnormality in vestibulo-ocular reflex is more severe in spiral homozygotes than in mice homozygous for the Zpld1cwh mutation (Stock No. 006123), but Zpld1cwh homozygotes all display circling and heterozygotes also have reduced vestibulo-ocular gain, which is not found in spiral heterozygotes. A targeted deletion of Zpld1 (Stock No. 031591) does not cause circling behavior although approximately one quarter of compound heterozygotes with one null and one sprl allele do display some circling behavior. (Vijayakumar et al., 2019.)
The spiral mutation arose spontaneously in the B6.129S4-Ccl2tm1Rol/J strain in approximately 2012 and was backcrossed to C57BL/6J via backcross-intercross for 2 generations to breed out the Ccl2tm1Rol allele. After this the strain was maintained by sibling intercrossing and sperm was cryopreserved in 2018 from homozygous males at generation N2F7. When the underlying mutation was defined it was determined that it arose in C57BL/6J-derived sequence.
Allele Name | spiral |
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Allele Type | Spontaneous (Null/Knockout) |
Allele Synonym(s) | |
Gene Symbol and Name | Zpld1, zona pellucida like domain containing 1 |
Gene Synonym(s) | |
Strain of Origin | B6.129S4-Ccl2tm1Rol/J |
Chromosome | 16 |
Molecular Note | 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. |
When using the B6(129S4)-Zpld1sprl/Kjn mouse strain in a publication, please cite the originating article(s) and include JAX stock #028920 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozyous for Zpld1<sprl> |
Frozen Mouse Embryo | B6(129S4)-Zpld1<sprl>/Kjn | $2595.00 |
Frozen Mouse Embryo | B6(129S4)-Zpld1<sprl>/Kjn | $2595.00 |
Frozen Mouse Embryo | B6(129S4)-Zpld1<sprl>/Kjn | $3373.50 |
Frozen Mouse Embryo | B6(129S4)-Zpld1<sprl>/Kjn | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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