Ndc1^sks
Spontaneous Allele Detail

Summary

• Symbol: Ndc1^sks
• Name: NDC1 transmembrane nucleoporin; skeletal fusions with sterility
• MGI ID: MGI:1856630
• Gene: Ndc1 Location: Chr4:107225244-107273543 bp, + strand Genetic Position: Chr4, 50.18 cM, cytoband C7
• Alliance: Ndc1^sks page

Mutation origin

• Strain of Origin: A/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Nucleotide substitutions
• Mutation details: A GG to TT substitution was found in exon 6 in a putative exonic splicing enhancer motif. As a result, the 109-bp sequence corresponding to exon 6 was deleted in mutant mice. This deletion creates a frameshift mutation resulting in premature termination at codon 225. Western blot analysis confirmed that no mature protein product was produced. (J:204898, J:222308)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	17 assay results
In Structures Affected by this Mutation:	8 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 Ndc1 Mutation: 40 strains or lines available

References

• Original: J:9569 Handel MA, et al., New mutation causing sterility in the mouse. Gamete Res. 1988 Dec;21(4):409-23
• All: 3 reference(s)