Identification of a missense mutation in the alphaA-crystallin gene of the lop18 mouse.
OBJECTIVE
The mouse lop18 (lens opacity 18) mutation causes a white cataract obvious at weaning age. It soon progresses to a large white nuclear cataract with mild cortical changes. The mutation maps to mouse Chromosome 17 in close linkage to the alphaA-crystallin (Crya) gene, which encodes one of the major vertebrate eye lens proteins. Here we report the identification of a missense mutation in the alphaA-crystallin gene of lop18/lop18 mutant mice.


METHODS
PCR primers were designed based on the alphaA-crystallin gene sequence from GenBank and PCR products were sequenced.


RESULTS
We have analysed the sequence of the alphaA-crystallin gene from the lop18/lop18 mouse and identified a missense mutation. This mutation is tightly associated with the cataract phenotype, as no recombination was detected in 112 meioses.


CONCLUSIONS
Our results suggest that a missense mutation in the alphaA-crystallin gene is responsible for the lop18/lop18 phenotype and Cryalop18 should be used as a gene symbol for the lop18 mutation.
Chang
B
B
The Jackson Laboratory, Bar Harbor, ME 04609, USA. bchang@jax.org
Hawes
N L
NL
Roderick
T H
TH
Smith
R S
RS
Heckenlively
J R
JR
Horwitz
J
J
Davisson
M T
MT
D000818:Animals; D001483:Base Sequence; D002386:Cataract / Q000235:genetics*; D003459:Crystallins / Q000235:genetics*; D051379:Mice; D008815:Mice, Inbred Strains; D008817:Mice, Mutant Strains; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction
D003459:Crystallins