Faculty Research 1990 - 1999

Title

Mapping and retinal phenotype of the hugger mutation in the mouse.

Document Type

Article

Publication Date

1997

Keywords

Animals-Newborn, Behavior-Animal, Cell-Differentiation: ge, Chromosome-Mapping, Female, Genes-Recessive, Linkage-(Genetics), Male, Mice, Mice-Inbred-C57BL, Motor-Activity: ge, Mutation, Retina: ab, ph, pa, SUPPORT-U-S-GOVT-P-H-S

JAX Source

Mamm Genome 1997 Jun;8(6):399-402

Grant

EY06631/EY/NEI, CA33093/CA/NCI, CA34196/CA/NCI

Abstract

Hugger, hug, is a recessively expressed mutation in mice that features mildly abnormal locomotion, not yet explained, and a unique combination of developmental and degenerative retinal abnormalities. Analysis with the efficient MEV linkage testing stock established that hug is on mouse Chr 19 about 14 cM from th centromere, between the microsatellite markers D19Mit28 and D19Mit14. An abnormal retinal phenotype was recognized on the day of birth, when some retinal ganglion cells already lie in abnormal positions in the inner plexiform layer. By postnatal day 18 the number of neurons is reduced in all three cellular layers of the retina. Rod photoreceptor cells develop only rudimentory outer segments, and by 9 months of age, about 75% of the photoreceptor cells have completely disappeared. Similar photoreceptor cell abnormalities are seen in prph2 (formerly rds) homozygotes, which lack the peripherin/rds protein of the rod outer segments, but a mating of the respective homozygotes yielded normal progeny. Rom1, which codes for an outer segment protein similar to peripherin/rds, maps to a more proximal position on Chr 19.

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