Hush puppy: a new mouse mutant with pinna, ossicle, and inner ear defects.
OBJECTIVE
Deafness can be associated with abnormalities of the pinna, ossicles, and cochlea. The authors studied a newly generated mouse mutant with pinna defects and asked whether these defects are associated with peripheral auditory or facial skeletal abnormalities, or both. Furthermore, the authors investigated where the mutation responsible for these defects was located in the mouse genome.


METHODS
The hearing of hush puppy mutants was assessed by Preyer reflex and electrophysiological measurement. The morphological features of their middle and inner ears were investigated by microdissection, paint-filling of the labyrinth, and scanning electron microscopy. Skeletal staining of skulls was performed to assess the craniofacial dimensions. Genome scanning was performed using microsatellite markers to localize the mutation to a chromosomal region.


RESULTS
Some hush puppy mutants showed early onset of hearing impairment. They had small, bat-like pinnae and normal malleus but abnormal incus and stapes. Some mutants had asymmetrical defects and showed reduced penetrance of the ear abnormalities. Paint-filling of newborns' inner ears revealed no morphological abnormality, although half of the mice studied were expected to carry the mutation. Reduced numbers of outer hair cells were demonstrated in mutants' cochlea on scanning electron microscopy. Skeletal staining showed that the mutants have significantly shorter snouts and mandibles. Genome scan revealed that the mutation lies on chromosome 8 between markers D8Mit58 and D8Mit289.


CONCLUSIONS
The study results indicate developmental problems of the first and second branchial arches and otocyst as a result of a single gene mutation. Similar defects are found in humans, and hush puppy provides a mouse model for investigation of such defects.
Pau
Henry
H
MRC Institute of Hearing Research, University Park, Nottingham, UK.
Fuchs
Helmut
H
de Angelis
Martin Hrabé
MH
Steel
Karen P
KP
D000818:Animals; D004195:Disease Models, Animal; D004423:Ear / Q000002:abnormalities*; D004429:Ear Ossicles / Q000002:abnormalities; D004431:Ear, External / Q000002:abnormalities; D007758:Ear, Inner / Q000002:abnormalities; D018072:Hair Cells, Auditory, Outer / Q000648:ultrastructure; D034381:Hearing Loss / Q000235:genetics; D051379:Mice; D008817:Mice, Mutant Strains; D008855:Microscopy, Electron, Scanning; D009154:Mutation; D012022:Reflex, Acoustic; D012886:Skull / Q000002:abnormalities