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Phenotypes Associated with This Genotype
Genotype
MGI:6156912
Allelic
Composition
Marveld2tm1Sats/Marveld2tm1Sats
Genetic
Background
B6.Cg-Marveld2tm1Sats
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Marveld2tm1Sats mutation (0 available); any Marveld2 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Progressive degeneration of hair cells in the organ of Corti of Marveld2tm1Sats/Marveld2tm1Sats mice

hearing/vestibular/ear
• hair cells are frequently lost in the cochlea without morphological changes at P21
• however, degeneration of hair cells in the vestibular sensory organs is not seen, ultrastructure of bicellular tight junctions is maintained, and apicobasal polarity is maintained in hair cells
• loss of cochlear inner hair cells is first seen at P21 and most are lost by P60
• cochlear outer hair cells are occasionally lost by P14, with loss rapidly progressing with age such that they are completely lost by P21
• apoptosis is seen in outer hair cells in the organ of Corti at P15
• P14 mice exhibit severe hearing loss, with a click ABR threshold of 87.5 +/- 3.2 dB sound pressure level, which is higher than in controls (60 +/- 4.2 dB)
• P21 mice exhibit profound hearing loss with no detectable ABR using a 90 dB click or tone burst stimuli at 8, 16, 24, or 32 kHz
• distortion product otoacoustic emission (DPOAE) is smaller compared to wild-type mice at all frequencies measured on P14 and undetectable on P21
• however, endocochlear potential and the paracellular permeability of the stria vascularis are maintained in P17-P24 mice
• mice develop an early-onset rapidly progressive hearing loss
• however, mice do not exhibit balance or gait abnormalities

behavior/neurological
• P21-P60 mice lack Preyers reflex in the startle response

nervous system
• hair cells are frequently lost in the cochlea without morphological changes at P21
• however, degeneration of hair cells in the vestibular sensory organs is not seen, ultrastructure of bicellular tight junctions is maintained, and apicobasal polarity is maintained in hair cells
• loss of cochlear inner hair cells is first seen at P21 and most are lost by P60
• cochlear outer hair cells are occasionally lost by P14, with loss rapidly progressing with age such that they are completely lost by P21
• apoptosis is seen in outer hair cells in the organ of Corti at P15

cardiovascular system
N
• heart histology appears normal

digestive/alimentary system
N
• colon and small intestine histology appear normal

endocrine/exocrine glands
N
• thyroid gland morphology appears normal

liver/biliary system
N
• liver histology appears normal

renal/urinary system
N
• kidney morphology appears normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive nonsyndromic deafness 49 DOID:0110506 OMIM:610153
J:261357


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
02/16/2021
MGI 6.16
The Jackson Laboratory