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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 (39 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
• 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
• completely deaf at 29 and 80 days of age as determined by ABR

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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory