Syne2^cpfl8
Spontaneous Allele Detail

Summary

• Symbol: Syne2^cpfl8
• Name: spectrin repeat containing, nuclear envelope 2; cone photoreceptor function loss 8
• MGI ID: MGI:3689343
• Synonyms: dice, diminished cone electroretinogram
• Gene: Syne2 Location: Chr12:75865092-76157702 bp, + strand Genetic Position: Chr12, 33.11 cM
• Alliance: Syne2^cpfl8 page

Mutation origin

• Strain of Origin: B6.129S7-Ifngr1^tm1Agt/J

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: A spontaneous C-to-T mutation results in the amino acid substitution of a termination codon for glutamine at position 4660 (p.Q4660*). The predicted protein terminates in the long spectrin repeat stretch upstream of the KASH transmembrane domain. (J:229433)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Syne2 Mutation: 297 strains or lines available

References

• Original: J:229433 Maddox DM, et al., A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Muller Glia. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3776-87
• All: 2 reference(s)