Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice

Hearing Research

Volumn 169, Issue 1-2, 2002, Pages 13-23

  Holme, Ralph H ^a   Steel, Karen P ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

Cadherin 23; Cdh23; Hair cell; Mouse mutant; Myo7a; Myosin VIIa; Stereocilia

Indexed keywords

CADHERIN; CADHERIN 23; MYOSIN; MYOSIN 7A; UNCLASSIFIED DRUG; CDH23 PROTEIN, HUMAN; CDH23 PROTEIN, MOUSE; DNA; DYNEIN ADENOSINE TRIPHOSPHATASE; MYOSIN VIIA;

AGE; ALLELE; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL MATURATION; CONTROLLED STUDY; CORTI ORGAN; EMBRYO; EMBRYO DEVELOPMENT; FEMALE; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HAIR CELL; HEARING LOSS; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOTE; IMMUNOHISTOCHEMISTRY; MALE; MOUSE; MUTANT; MUTATION; NEWBORN; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SCANNING ELECTRON MICROSCOPY; STEREOCILIUM; USHER SYNDROME; ANIMAL; BAGG ALBINO MOUSE; C57BL MOUSE; CBA MOUSE; EUKARYOTIC FLAGELLUM; GENETICS; HEARING IMPAIRMENT; HUMAN; MOUSE MUTANT; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRENATAL DEVELOPMENT; PRESBYACUSIS; ULTRASTRUCTURE;

ALLELES; ANIMAL; BASE SEQUENCE; CADHERINS; CILIA; DEAFNESS; DNA; FEMALE; HAIR CELLS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MICE; MICE, INBRED BALB C; MICE, INBRED C57BL; MICE, INBRED CBA; MICE, MUTANT STRAINS; MICROSCOPY, ELECTRON, SCANNING; MUTATION; MYOSINS; PHENOTYPE; PRESBYCUSIS; SUPPORT, NON-U.S. GOV'T; ANIMALS; DYNEIN ATPASE; HUMANS;

EID: 0036019389     PISSN: 03785955     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-5955(02)00334-9     Document Type: Article

References (48)

1. Mutations in the cadherin superfamily member gene dachsous cause a tissue polarity phenotype by altering frizzled signaling
2. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
3. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
4. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
5. Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzer
6. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I
7. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
8. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
9. Usher Syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
10. Planar polarity: out of joint?
11. v)
12. The Drosophila tissue polarity gene starry night encodes a member of the protocadherin family
13. The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse
14. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
15. A type VII myosin encoded by the mouse deafness gene shaker-1
16. The ankle-link antigen: an epitope sensitive to calcium chelation associated with the hair-cell surface and the calycal processes of photoreceptors
17. Unconventional myosins in inner-ear sensory epithelia
18. Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression
19. A technique for preparation of cochlear specimens for assessment with the scanning electron microscope
20. A major gene affecting age-related hearing loss in C57BL/6J mice
21. A major gene affecting age-related hearing loss is common to at least ten inbred strains of mice
22. The Usher syndromes
23. Tailchaser (Tlc): A new mouse mutation affecting hair bundle differentiation and hair cell survival
24. Ultrastructural findings in the inner ear of Jackson shaker mice
25. Morphological changes of cochlea in a strain of new-mutant mice
26. A role for cadherins in cellular signaling and differentiation
27. Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex
28. Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells
29. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
30. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
31. Shaker, a new mutation of the house mouse (Mus musculus)
32. Mutation analysis of the mouse myosin VIIA deafness gene
33. mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw)
34. Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members
35. Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice
36. A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis
37. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells
38. Genetically induced inner ear degeneration. A structural and functional study
39. 2+-ATPase gene cause deafness in deafwaddler mice
40. Unconventional myosins: New frontiers in actin-based motors
41. Flamingo, a seven-pass transmembrane cadherin, regulates planar cell polarity under the control of Frizzled
42. Usher's syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literature survey
43. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
44. A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, waltzer mouse niigata
45. Defective myosin VIIA gene responsible for Usher syndrome type 1B
46. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
47. Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice
48. The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins