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

Symbol:	Syne2cpfl8
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:	Syne2cpfl8 page

Strain of Origin:

B6.129S7-Ifngr1tm1Agt/J

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

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

In Structures Affected by this Mutation:

4 anatomical structure(s)

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

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)