Clec16a^curt
Spontaneous Allele Detail

Summary

• Symbol: Clec16a^curt
• Name: C-type lectin domain family 16, member A; curvy tail
• MGI ID: MGI:5009280
• Gene: Clec16a Location: Chr16:10363203-10562742 bp, + strand Genetic Position: Chr16, 5.68 cM
• Alliance: Clec16a^curt page

Mutation origin

• Strain of Origin: SWR/J-Clcn1^adr-mto/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: This spontaneous mutation presents as a 4 base pair deletion in exon 21 at chromosome 16 position 10,694,632-635 bp (GRCm38), which results in a frameshift mutation that leads to the introduction of novel amino acids and an early termination codon. Transcript levels of this mutant allele were found to be significantly decreased in homozygous embryonic fibroblasts. (J:190968, J:222308, J:251104)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Clec16a Mutation: 48 strains or lines available

References

• Original: J:172931 Harris BS, et al., Curvy tail: a new skeletal mutation that maps to Chromosome 16. MGI Direct Data Submission. 2011
• All: 4 reference(s)