Phenotypes Associated with This Genotype

Genotype
MGI:6156912

• Allelic Composition: Marveld2^tm1Sats/Marveld2^tm1Sats
• Genetic Background: B6.Cg-Marveld2^tm1Sats

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Progressive degeneration of hair cells in the organ of Corti of Marveld2^tm1Sats/Marveld2^tm1Sats mice

hearing/vestibular/ear

cochlear hair cell degeneration ( J:261357 )

• 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

cochlear inner hair cell degeneration ( J:261357 )

• loss of cochlear inner hair cells is first seen at P21 and most are lost by P60

cochlear outer hair cell degeneration ( J:261357 )

• 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

increased or absent threshold for auditory brainstem response ( J:261357 )

• 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

abnormal distortion product otoacoustic emission ( J:261357 )

• 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

deafness ( J:261357 )

• mice develop an early-onset rapidly progressive hearing loss

• however, mice do not exhibit balance or gait abnormalities

behavior/neurological

absent pinna reflex ( J:261357 )

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

nervous system

cochlear hair cell degeneration ( J:261357 )

• 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

cochlear inner hair cell degeneration ( J:261357 )

• loss of cochlear inner hair cells is first seen at P21 and most are lost by P60

cochlear outer hair cell degeneration ( J:261357 )

• 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

cardiovascular system phenotype ( J:261357 )

N • heart histology appears normal

digestive/alimentary system

digestive/alimentary phenotype ( J:261357 )

N • colon and small intestine histology appear normal

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:261357 )

N • thyroid gland morphology appears normal

liver/biliary system

liver/biliary system phenotype ( J:261357 )

N • liver histology appears normal

renal/urinary system

renal/urinary system phenotype ( J:261357 )

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