Phenotypes associated with this allele

• Allele Symbol: Slitrk6^tm1.1Jaru
• Allele Name: targeted mutation 1.1, Jun Aruga
• Allele ID: MGI:4417931
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slitrk6^tm1.1Jaru/Slitrk6^tm1.1Jaru	B6.129P2-Slitrk6^tm1.1Jaru	MGI:4417932
hm2	Slitrk6^tm1.1Jaru/Slitrk6^tm1.1Jaru	involves: 129P2/OlaHsd	MGI:4941487

Genotype
MGI:4417932

hm1

• Allelic Composition: Slitrk6^tm1.1Jaru/Slitrk6^tm1.1Jaru
• Genetic Background: B6.129P2-Slitrk6^tm1.1Jaru

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

Cochlear innervation defects in Slitrk6^tm1.1Jaru/Slitrk6^tm1.1Jaru mice

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:155405 )

• defects in innervation still prominent at P28

abnormal cochlear IHC afferent innervation pattern ( J:155405 )

• at P0, the radial fibers are fasciculate with large spaces between the bundles, through all turns of the cochlea

• E16.5 and P7, radial fiber projections to the organ of Corti are strongly reduced

abnormal cochlear IHC efferent innervation pattern ( J:155405 )

• at P0 the efferent fibers are abnormally fasciculate into fewer radial bundles, through all turns of the cochlea

• at E16.5 and P7 radial fiber projections to the organ of Corti are strongly reduced

abnormal cochlear OHC efferent innervation pattern ( J:155405 )

• at P7 type II spiral fibers that extend through the tunnel of Corti to the three rows of outer hair cells are reduced in number

abnormal crista ampullaris morphology ( J:155405 )

• from E13.5 to E15.5, innervation to the posterior crista is frequently absent they sometimes show reduced and abnormal trajectories

• At P28 innervation to the posterior crista is frequently absent

abnormal crista ampullaris neuroepithelium morphology ( J:155405 )

• sensory epithelia in the posterior crista are slightly smaller than those of wild-type littermates at E16.5, but not at E13.5

deafness ( J:201352 )

vision/eye

abnormal lens morphology ( J:201352 )

• increased axial length without a change in thickness

• however, axial length is normal at birth

abnormal retina morphology ( J:201352 )

• delay in synaptogenesis in the retina

myopia ( J:201352 )

nervous system

abnormal cochlear hair cell morphology ( J:155405 )

• defects in innervation still prominent at P28

abnormal cochlear IHC afferent innervation pattern ( J:155405 )

• at P0, the radial fibers are fasciculate with large spaces between the bundles, through all turns of the cochlea

• E16.5 and P7, radial fiber projections to the organ of Corti are strongly reduced

abnormal cochlear IHC efferent innervation pattern ( J:155405 )

• at P0 the efferent fibers are abnormally fasciculate into fewer radial bundles, through all turns of the cochlea

• at E16.5 and P7 radial fiber projections to the organ of Corti are strongly reduced

abnormal cochlear OHC efferent innervation pattern ( J:155405 )

• at P7 type II spiral fibers that extend through the tunnel of Corti to the three rows of outer hair cells are reduced in number

small cochlear ganglion ( J:155405 )

• the number of neurons and total ganglion volume are decreased to about 50% of those of in wild-type mice at E16.5 and P0

• cell death is significantly higher at E16.5 and P0 compared to wild-type controls

small vestibular ganglion ( J:155405 )

• both the number of neurons and total ganglion volume begin to decrease from E13.5, and their values are about 75% of those of wild-type mice from E16.5 to P0

• cell death is significantly higher at E13.5and E16.5 compared to wild-type mice

abnormal neuron physiology ( J:155405 )

• in culture attraction of neurites to sensory epithelia from null mice is weak compared to the response to wild-type sensory epithelia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
high myopia-sensorineural deafness syndrome		DOID:0111628	OMIM:221200	J:201352

Genotype
MGI:4941487

hm2

• Allelic Composition: Slitrk6^tm1.1Jaru/Slitrk6^tm1.1Jaru
• Genetic Background: involves: 129P2/OlaHsd

behavior/neurological

behavior/neurological phenotype ( J:169557 )

N • mice exhibit normal swimming, contact righting, rotarod performance, and anxiety-related behavior

abnormal behavior ( J:169557 )

• in a hole-board test, mice exhibit increased total duration of head dipping and decreased latency to head dip compared with wild-type mice

• mice exhibit a decrement in immobility time when suspended by the tail compared with wild-type mice

decreased startle reflex ( J:169557 )

abnormal vertical vestibuloocular reflex ( J:169557 )

• mice exhibit decreased vertical vestibulo-ocular reflex compared with wild-type mice

• however, mice exhibit normal horizontal vestibulo-ocular reflex and horizontal optokinetic response

decreased locomotor activity ( J:169557 )

• mice exhibit a slight decrease in activity during the dark phase compared with wild-type mice

• in an open field test, mice exhibit less activity and spend more time in the center of the area compared with wild-type mice

hyperactivity ( J:169557 )

• during the light phase

hearing/vestibular/ear

abnormal vertical vestibuloocular reflex ( J:169557 )

• mice exhibit decreased vertical vestibulo-ocular reflex compared with wild-type mice

• however, mice exhibit normal horizontal vestibulo-ocular reflex and horizontal optokinetic response

increased or absent threshold for auditory brainstem response ( J:169557 )

growth/size/body

decreased body weight ( J:169557 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
sensorineural hearing loss		DOID:10003		J:169557