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Phenotypes Associated with This Genotype
Genotype
MGI:3712949
Allelic
Composition
Slc26a4pdsm/Slc26a4pdsm
Genetic
Background
BXA7/PgnJ-Slc26a4pdsm/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc26a4pdsm mutation (1 available); any Slc26a4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Inner ear histology of an Slc26a4pdsm/Slc26a4pdsm mouse

hearing/vestibular/ear
• displacement of Reissner's membrane enlarges the scala media (J:121997)
• displacement of Reissner's membrane enlarges the scala media (J:121997)
• reduced or absent hair cells in the inner ear (J:121997)
• reduced or absent hair cells in the inner ear (J:121997)
• malformation of the tectorial membrane (J:121997)
• malformation of the tectorial membrane (J:121997)
• incomplete turning of the cochlea (J:121997)
• incomplete turning of the cochlea (J:121997)
• reduced or absent otoconia (J:121997)
• reduced or absent otoconia (J:121997)
• reduction of otoconia in the utricular and saccular maculae (J:121997)
• reduction of otoconia in the utricular and saccular maculae (J:121997)
• no response was obtained to 100dB SPL (J:121997)
• no response was obtained to 100dB SPL (J:121997)
• completely deaf at 29 and 80 days of age as determined by ABR (J:121997)
• completely deaf at 29 and 80 days of age as determined by ABR (J:121997)

reproductive system
N
• male fertility does not appear diminished despite reduced concentration and motility of sperm (J:121997)
• male fertility does not appear diminished despite reduced concentration and motility of sperm (J:121997)
• partial testicular atrophy (J:121997)
• partial testicular atrophy (J:121997)
• reduced total concentration of sperm (J:121997)
• reduced total concentration of sperm (J:121997)
• sperm motility is greatly reduced (J:121997)
• sperm motility is greatly reduced (J:121997)

behavior/neurological

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 (J:121997)
• homozygotes do not display any signs of hypothyroidism as assessed by blood serum chemistry of thyroid histology from 4 to 53 weeks of age (J:121997)
• partial testicular atrophy (J:121997)
• partial testicular atrophy (J:121997)

nervous system
• reduced or absent hair cells in the inner ear (J:121997)
• reduced or absent hair cells in the inner ear (J:121997)
• reduced or absent spiral ganglion cells (J:121997)
• reduced or absent spiral ganglion cells (J:121997)

Mouse Models of Human Disease
OMIM ID Ref(s)
Pendred Syndrome; PDS 274600 J:121997


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory