hearing/vestibular/ear
• displacement of Reissner's membrane enlarges the scala media
|
• reduced or absent hair cells in the inner ear
|
• malformation of the tectorial membrane
|
• incomplete turning of the cochlea
|
• reduction of otoconia in the utricular and saccular maculae
|
• reduced or absent otoconia
|
• no response was obtained to 100dB SPL
|
reproductive system
N |
• male fertility does not appear diminished despite reduced concentration and motility of sperm
|
• reduced total concentration of sperm
|
• sperm motility is greatly reduced
|
• partial testicular atrophy
|
behavior/neurological
head bobbing
(
J:121997
)
endocrine/exocrine glands
N |
• homozygotes do not display any signs of hypothyroidism as assessed by blood serum chemistry of thyroid histology from 4 to 53 weeks of age
|
• partial testicular atrophy
|
nervous system
• reduced or absent hair cells in the inner ear
|
• reduced or absent spiral ganglion cells
|
cellular
• reduced total concentration of sperm
|
• sperm motility is greatly reduced
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Pendred Syndrome | DOID:0060744 |
OMIM:274600 |
J:121997 |