Phenotypes Associated with This Genotype

Genotype
MGI:5550096

• Allelic Composition: Marveld2^tm1.1Sria/Marveld2^tm1.1Sria
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:201580 )

N • vestibular function is intact and no hair cell death is seen in the vestibular organs

abnormal organ of Corti morphology ( J:201580 )

• tricellular tight junction-like structures appear discontinuous, are formed by a series of particles arranged in an orderly but disconnected fashion, and the fishbone-like appearance is absent

cochlear hair cell degeneration ( J:201580 )

• progressive degeneration starting by P16

• by P35, no outer hair cells and very few inner hair cells are present

cochlear inner hair cell degeneration ( J:201580 )

• starts later than in outer hair cells

• very few inner hair cells are left by P35 and these are confined to the apical and middle turns of the cochlea

cochlear outer hair cell degeneration ( J:201580 )

• progressive degeneration starting by P16

• by P35 no outer hair cells are left

abnormal stria vascularis morphology ( J:201580 )

• abnormal tricellular tight junctions in the marginal cells

• however, barrier function is unaffected

thin stria vascularis ( J:201580 )

• thinning is seen in mice at 3 months of age

abnormal utricular macula morphology ( J:201580 )

• abnormal tricellular tight junctions

increased or absent threshold for auditory brainstem response ( J:201580 )

• detected as early as P16 and worsens with age

• profoundly deaf across all frequencies by P30

abnormal distortion product otoacoustic emission ( J:201580 )

• attenuated compared to controls at P16-17

deafness ( J:201580 )

• display rapidly progressing hearing loss and are profoundly deaf by P30

syndromic hearing loss ( J:201580 )

nervous system

cochlear hair cell degeneration ( J:201580 )

• progressive degeneration starting by P16

• by P35, no outer hair cells and very few inner hair cells are present

cochlear inner hair cell degeneration ( J:201580 )

• starts later than in outer hair cells

• very few inner hair cells are left by P35 and these are confined to the apical and middle turns of the cochlea

cochlear outer hair cell degeneration ( J:201580 )

• progressive degeneration starting by P16

• by P35 no outer hair cells are left

cochlear ganglion degeneration ( J:201580 )

• progressive degeneration after P50

cardiovascular system

abnormal myocardial fiber morphology ( J:201580 )

• increase in the number of myocytes with enlarged nuclei

increased heart weight ( J:201580 )

• increased heart to brain weight ratio

growth/size/body

increased heart weight ( J:201580 )

• increased heart to brain weight ratio

abnormal olfactory epithelium morphology ( J:201580 )

• abnormalities in the rostral olfactory epithelium

increased body weight ( J:201580 )

• at 3 months of age

increased kidney weight ( J:201580 )

• increased kidney to brain weight ratio

increased liver weight ( J:201580 )

• increased liver to brain weight ratio

increased spleen weight ( J:201580 )

• increased spleen to brain weight ratio

hematopoietic system

increased spleen weight ( J:201580 )

• increased spleen to brain weight ratio

immune system

increased spleen weight ( J:201580 )

• increased spleen to brain weight ratio

liver/biliary system

increased liver weight ( J:201580 )

• increased liver to brain weight ratio

renal/urinary system

increased kidney weight ( J:201580 )

• increased kidney to brain weight ratio

craniofacial

abnormal olfactory epithelium morphology ( J:201580 )

• abnormalities in the rostral olfactory epithelium

digestive/alimentary system

abnormal salivary gland duct morphology ( J:201580 )

• granular ducts of the mandibular salivary glands show a decrease in granules in males and depletion of the granules in females

endocrine/exocrine glands

abnormal salivary gland duct morphology ( J:201580 )

• granular ducts of the mandibular salivary glands show a decrease in granules in males and depletion of the granules in females

abnormal thyroid follicle morphology ( J:201580 )

• increase in the number of ectatic thyroid follicles

muscle

abnormal myocardial fiber morphology ( J:201580 )

• increase in the number of myocytes with enlarged nuclei

respiratory system

abnormal olfactory epithelium morphology ( J:201580 )

• abnormalities in the rostral olfactory epithelium

taste/olfaction

abnormal olfactory epithelium morphology ( J:201580 )

• abnormalities in the rostral olfactory epithelium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 49		DOID:0110506	OMIM:610153	J:201580