Log in
|
Help
|
English

English

Engish-Pirate

한국어

Search

Advanced Search

Find results with:

Add another field

Search by date

to

Searching collections:

Tulane University Theses and Dissertations Archive

Add or remove collections

Home Hearing, visual and molecular phenotypes of Ames waltzer and waltzer mice

Reference URL

Share

Add tags

Comment

Rate

To link to this object, paste this link in email, IM or document

To embed this object, paste this HTML in website

Hearing, visual and molecular phenotypes of Ames waltzer and waltzer mice

View Description

small (250x250 max)

medium (500x500 max)

large ( > 500x500)

Full Resolution

There is no file associated with this item.

you wish to report:

Your comment:

Your Name:

Submit

Cancel

...

Back to top

Powered by CONTENTdm®

Select the collections to add or remove from your search

A

B

C

D

E

F

G

H

I

J

K

L

M

N

O

P

Q

R

S

T

U

V

W

X

Y

Z

Select All Collections

OK

Cancel

Disclaimer	Access requires a license to the Dissertations and Theses (ProQuest) database.
Link to File	http://libproxy.tulane.edu:2048/login?url=http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3210865
Title	Hearing, visual and molecular phenotypes of Ames waltzer and waltzer mice
Author	Haywood-Watson, Ricky Joe Louis, II
School	Tulane University
Academic Field	Biology, Molecular Biology, Cell Health Sciences, Pathology
Abstract	Usher syndrome (USH) affects an estimated 1/16,000 to 1/50,000 people worldwide and has been reported to underlie a majority of deaf-blindness. There are three generally accepted clinical subtypes of Usher syndrome, which is a recessively inherited neurosensory disorder. Usher syndrome type 1 is characterized by profound congenital deafness, retinitis pigmentosa and vestibular abnormalities in humans. Seven USH1 loci have been mapped and genes for five of them have been identified. Mutations in CDH23, the gene encoding cadherin 23, were found in both USH1D and DFNB12 patients. Missense mutations of CDH23 also cause nonsyndromic recessive deafness, while more severe mutations (truncating mutations and some missense mutations) are associated with an USH1D phenotype. Protein truncating mutations in the gene encoding protocadherin 15 (PCDH15) cause Usher syndrome type 1 (USH1F) while less disabling mutant alleles of PCDH15 are associated with nonsyndromic recessive hearing loss (DFNB23). This suggests that the retina is somehow resistant to the effects of altered or reduced levels of protocadherin 15 due to particular missense mutations, which nevertheless cause profound deafness. In the waltzer (v) and Ames waltzer (av) mouse, recessive mutations of Cdh23 and Pcdh15, respectively, are associated with profound deafness and circling behavior, but not retinal degeneration. In this study of Pcdh15av-5J mice and mice either double heterozygous or double homozygous for the Cdh23v-6J and Pcdh15av-Jfb alleles, we extended the characterization of the auditory phenotype and initiated a study of the retinal phenotype of these mice. We have shown that two alleles of young Ames waltzer mice have (Pcdh15av-5Jfb, Pcdh15av-5J ) have significantly reduced electroretinogram (ERG) potentials and provide evidence suggesting that splice variants of Pcdh15 may compensate for the mutant allele in the eye but not in the ear. Furthermore, we show that there are no obvious genetic interactions between the Cdh23v-6J and Pcdh15av-Jfb alleles using double heterozygous as well as double homozygous mice
Language	eng
Advisor(s)	Garcia, Meredith Mason
Degree Date	2005
Degree	Ph.D
Publisher	Tulane University
Publication Date	2005
Source	Source: 144 p., Dissertation Abstracts International, Volume: 67-03, Section: B, page: 1279
Identifier	See 'reference url' on the navigation bar.
Rights	Copyright is in accordance with U.S. Copyright law
Contact Information	digitallibrary@tulane.edu
Rating

Find results with:

Searching collections:

Home Hearing, visual and molecular phenotypes of Ames waltzer and waltzer mice

Hearing, visual and molecular phenotypes of Ames waltzer and waltzer mice

Description

Tags

Comments