Cdh23<v-2J> Spontaneous Allele Detail MGI Mouse (MGI:2154548)

Cdh23^v-2J
Spontaneous Allele Detail

Nomenclature

Symbol:	Cdh23^v-2J
Name:	cadherin 23 (otocadherin); waltzer 2 Jackson
MGI ID:	MGI:2154548
Gene:	Cdh23 Location: Chr10:59765496-60159238 bp, - strand Genetic Position: Chr10, 30.3 cM

Mutation
origin

Strain of Origin:

C57BL/6

Mutation
description

Allele Type:	Spontaneous
Mutation:	Single point mutation
	A G-to-A transition at the first nucleotide of intron 32 alters the wild-type donor splice site. RT-PCR analysis demonstrated that aberrant transcripts were produced from this allele, and all of these were predicted to introduce a premature stop codon. (J:66698)
Inheritance:	Recessive

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Cdh23 Mutation:	55 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	ht2	ht3	cx4	cx5
behavior/neurological		√	√			√
abnormal reflex		√
absent pinna reflex			√			√
circling		√
impaired swimming		√
		hm1	ht2	ht3	cx4	cx5
hearing/vestibular/ear		√	√	√	√	√
abnormal ear morphology		√
abnormal cochlear hair cell inter-stereocilial links		√
abnormal cochlear hair bundle tip links		√
abnormal inner hair cell stereociliary bundle morphology		√			√
abnormal orientation of cochlear hair cell stereociliary bundles		√
abnormal cochlear outer hair cell morphology		√
abnormal outer hair cell stereociliary bundle morphology		√			√
absent outer hair cell stereocilia		√
decreased outer hair cell stereocilia number		√
abnormal vestibular hair cell stereociliary bundle morphology		√
cochlear hair cell degeneration					√
abnormal ear physiology		√
circling		√
absent brainstem auditory evoked potential		√
absent linear vestibular evoked potential		√
absent pinna reflex			√			√
increased susceptibility to age-related hearing loss			√		√	√
deafness				√
decreased brainstem auditory evoked potential					√
		hm1	ht2	ht3	cx4	cx5
nervous system		√			√
abnormal cochlear hair cell inter-stereocilial links		√
abnormal cochlear hair bundle tip links		√
abnormal inner hair cell stereociliary bundle morphology		√			√
abnormal orientation of cochlear hair cell stereociliary bundles		√
abnormal cochlear outer hair cell morphology		√
abnormal outer hair cell stereociliary bundle morphology		√			√
absent outer hair cell stereocilia		√
decreased outer hair cell stereocilia number		√
abnormal vestibular hair cell stereociliary bundle morphology		√
cochlear hair cell degeneration					√
cochlear ganglion degeneration					√
		hm1	ht2	ht3	cx4	cx5
vision/eye		√			N
vision/eye phenotype		N			N
abnormal eye electrophysiology		√

		hm1	ht2	ht3	cx4	cx5
Disease Models		√
Usher Syndrome, Type ID; USH1D		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

hm1 Disease Model

Cdh23^v-2J/Cdh23^v-2J

C57BL/6J-Cdh23^v-2J/J

hearing/vestibular/earabnormal ear morphology (J:66698)

abnormal cochlear hair cell inter-stereocilial links (J:135991)

lateral links that connect stereocilia to each other are sparse and frequently disrupted

abnormal cochlear hair bundle tip links (J:135991)

apical links are not present in P5 mice

abnormal inner hair cell stereociliary bundle morphology (J:66698, J:135991)

at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape (J:66698)

at P4, IHCs remain disorganized (J:66698)

E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles (J:135991)

stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles (J:135991)

kinocilia are often dissassocaited from the stereociliary clumps (J:135991)

abnormal orientation of cochlear hair cell stereociliary bundles (J:135991)

kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 14% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice

the mean absolute kinociliary deviation is 52 degrees compared to 8 degrees in wild-type mice

abnormal cochlear outer hair cell morphology (J:66698)

at E18.5, the outer hair cells (OHCs) appear immature

abnormal outer hair cell stereociliary bundle morphology (J:66698, J:135991)

at E18.5, the kinocilium is often misplaced from the lateral pole of each cell and the stereocilia, when present, are positioned correctly (J:66698)

at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern (J:66698)

E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles (J:135991)

stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles (J:135991)

kinocilia are often dissassocaited from the stereociliary clumps (J:135991)

absent outer hair cell stereocilia (J:66698)

in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia

decreased outer hair cell stereocilia number (J:66698)

in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia

abnormal vestibular hair cell stereociliary bundle morphology (J:66698)

at P4, stereocilia appear thick and are often fused and disorganized

abnormal ear physiology (J:66698)

circling (J:116914)

absent brainstem auditory evoked potential (J:66698)

mice at 3-4 weeks of age do not return normal waveforms at a sound pressure level of 100 dB

absent linear vestibular evoked potential (J:116914)

VESPs are absent at the maximum stimulus intensity used

behavior/neurologicalabnormal reflex (J:116914)

abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior

circling (J:116914)

impaired swimming (J:116914)

mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface

vision/eyevision/eye phenotype (J:109546)

mice do not exhibit signs of retinal degeneration up to 12 months of age and the melanosomes of the retinal pigment epithelium (RPE) are properly localized

abnormal eye electrophysiology (J:109546)

electroretinography analysis of mutant retinas show no difference in amlplitudes of a- and b-waves, but the implicit times of both waves are significantly faster from the earliest detectable points

nervous systemabnormal cochlear hair cell inter-stereocilial links (J:135991)

lateral links that connect stereocilia to each other are sparse and frequently disrupted

abnormal cochlear hair bundle tip links (J:135991)

apical links are not present in P5 mice

abnormal inner hair cell stereociliary bundle morphology (J:66698, J:135991)

at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape (J:66698)

at P4, IHCs remain disorganized (J:66698)

E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles (J:135991)

stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles (J:135991)

kinocilia are often dissassocaited from the stereociliary clumps (J:135991)

abnormal orientation of cochlear hair cell stereociliary bundles (J:135991)

kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 14% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice

the mean absolute kinociliary deviation is 52 degrees compared to 8 degrees in wild-type mice

abnormal cochlear outer hair cell morphology (J:66698)

at E18.5, the outer hair cells (OHCs) appear immature

abnormal outer hair cell stereociliary bundle morphology (J:66698, J:135991)

at E18.5, the kinocilium is often misplaced from the lateral pole of each cell and the stereocilia, when present, are positioned correctly (J:66698)

at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern (J:66698)

E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles (J:135991)

stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles (J:135991)

kinocilia are often dissassocaited from the stereociliary clumps (J:135991)

absent outer hair cell stereocilia (J:66698)

in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia

decreased outer hair cell stereocilia number (J:66698)

in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia

abnormal vestibular hair cell stereociliary bundle morphology (J:66698)

at P4, stereocilia appear thick and are often fused and disorganized

Mouse Models of Human Disease	Note	Ref(s)
Models with phenotypic similarity to human diseases associated with human CDH23.
Usher Syndrome, Type ID; USH1D		J:66698

ht2

Cdh23^v-2J/Cdh23⁺

mixed

ht3

Cdh23^sals/Cdh23^v-2J

involves: C57BL/6

cx4

Cdh23^v-2J/Cdh23⁺
Pcdh15^av-3J/Pcdh15⁺

C57BL/6J-Cdh23^v-2J Pcdh15^av-3J

cx5

Cdh23^v-2J/Cdh23⁺
Myo7a^4626SB/Myo7a⁺

mixed

Disease
models

Mouse Models of Human Disease	Note	Genotype			Ref(s)
			Allelic Composition	Genetic Background
Models with phenotypic similarity to human diseases associated with human CDH23.
Usher Syndrome, Type ID; USH1D OMIM ID: 601067		hm1	Cdh23^v-2J/Cdh23^v-2J	C57BL/6J-Cdh23^v-2J/J	J:66698

References

Original:	J:66698 Di Palma F et al., "Mutations in cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for usher syndrome type 1D" Nat Genet 2001 Jan;27(1):103-7
All:	9 reference(s)

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