The Tennessee Mouse Genome Consortium

Identification of ocular mutants

Monica Jablonski, Xiaofei Wang, Lu Lu, Darla R. Miller, Eugene M. Rinchik, Robert Williams, Daniel Goldowitz

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

The Tennessee Mouse Genome Consortium (TMGC) is in its fifth year of a ethylnitrosourea (ENU)-based mutagenesis screen to detect recessive mutations that affect the eye and brain. Each pedigree is tested by various phenotyping domains including the eye, neurohistology, behavior, aging, ethanol, drug, social behavior, auditory, and epilepsy domains. The utilization of a highly efficient breeding protocol and coordination of various universities across Tennessee makes it possible for mice with ENU-induced mutations to be evaluated by nine distinct phenotyping domains within this large-scale project known as the TMGC. Our goal is to create mutant lines that model human diseases and disease syndromes and to make the mutant mice available to the scientific research community. Within the eye domain, mice are screened for anterior and posterior segment abnormalities using slit-lamp biomicroscopy, indirect ophthalmoscopy, fundus photography, eye weight, histology, and immunohistochemistry. As of January 2005, we have screened 958 pedigrees and 4800 mice, excluding those used in mapping studies. We have thus far identified seven pedigrees with primary ocular abnormalities. Six of the mutant pedigrees have retinal or subretinal aberrations, while the remaining pedigree presents with an abnormal eye size. Continued characterization of these mutant mice should in most cases lead to the identification of the mutated gene, as well as provide insight into the function of each gene. Mice from each of these pedigrees of mutant mice are available for distribution to researchers for independent study.

Original languageEnglish (US)
Pages (from-to)595-604
Number of pages10
JournalVisual neuroscience
Volume22
Issue number5
DOIs
StatePublished - Sep 1 2005

Fingerprint

Genome
Pedigree
Ethylnitrosourea
Eye Abnormalities
Ophthalmoscopy
Mutation
Social Behavior
Photography
Mutagenesis
Genes
Breeding
Epilepsy
Histology
Ethanol
Immunohistochemistry
Research Personnel
Weights and Measures
Brain
Research
Pharmaceutical Preparations

All Science Journal Classification (ASJC) codes

  • Physiology
  • Sensory Systems

Cite this

The Tennessee Mouse Genome Consortium : Identification of ocular mutants. / Jablonski, Monica; Wang, Xiaofei; Lu, Lu; Miller, Darla R.; Rinchik, Eugene M.; Williams, Robert; Goldowitz, Daniel.

In: Visual neuroscience, Vol. 22, No. 5, 01.09.2005, p. 595-604.

Research output: Contribution to journalArticle

Jablonski, Monica ; Wang, Xiaofei ; Lu, Lu ; Miller, Darla R. ; Rinchik, Eugene M. ; Williams, Robert ; Goldowitz, Daniel. / The Tennessee Mouse Genome Consortium : Identification of ocular mutants. In: Visual neuroscience. 2005 ; Vol. 22, No. 5. pp. 595-604.
@article{a2b952421b794b4bb4df8ee3c5f7c5dd,
title = "The Tennessee Mouse Genome Consortium: Identification of ocular mutants",
abstract = "The Tennessee Mouse Genome Consortium (TMGC) is in its fifth year of a ethylnitrosourea (ENU)-based mutagenesis screen to detect recessive mutations that affect the eye and brain. Each pedigree is tested by various phenotyping domains including the eye, neurohistology, behavior, aging, ethanol, drug, social behavior, auditory, and epilepsy domains. The utilization of a highly efficient breeding protocol and coordination of various universities across Tennessee makes it possible for mice with ENU-induced mutations to be evaluated by nine distinct phenotyping domains within this large-scale project known as the TMGC. Our goal is to create mutant lines that model human diseases and disease syndromes and to make the mutant mice available to the scientific research community. Within the eye domain, mice are screened for anterior and posterior segment abnormalities using slit-lamp biomicroscopy, indirect ophthalmoscopy, fundus photography, eye weight, histology, and immunohistochemistry. As of January 2005, we have screened 958 pedigrees and 4800 mice, excluding those used in mapping studies. We have thus far identified seven pedigrees with primary ocular abnormalities. Six of the mutant pedigrees have retinal or subretinal aberrations, while the remaining pedigree presents with an abnormal eye size. Continued characterization of these mutant mice should in most cases lead to the identification of the mutated gene, as well as provide insight into the function of each gene. Mice from each of these pedigrees of mutant mice are available for distribution to researchers for independent study.",
author = "Monica Jablonski and Xiaofei Wang and Lu Lu and Miller, {Darla R.} and Rinchik, {Eugene M.} and Robert Williams and Daniel Goldowitz",
year = "2005",
month = "9",
day = "1",
doi = "10.1017/S0952523805225087",
language = "English (US)",
volume = "22",
pages = "595--604",
journal = "Visual Neuroscience",
issn = "0952-5238",
publisher = "Cambridge University Press",
number = "5",

}

TY - JOUR

T1 - The Tennessee Mouse Genome Consortium

T2 - Identification of ocular mutants

AU - Jablonski, Monica

AU - Wang, Xiaofei

AU - Lu, Lu

AU - Miller, Darla R.

AU - Rinchik, Eugene M.

AU - Williams, Robert

AU - Goldowitz, Daniel

PY - 2005/9/1

Y1 - 2005/9/1

N2 - The Tennessee Mouse Genome Consortium (TMGC) is in its fifth year of a ethylnitrosourea (ENU)-based mutagenesis screen to detect recessive mutations that affect the eye and brain. Each pedigree is tested by various phenotyping domains including the eye, neurohistology, behavior, aging, ethanol, drug, social behavior, auditory, and epilepsy domains. The utilization of a highly efficient breeding protocol and coordination of various universities across Tennessee makes it possible for mice with ENU-induced mutations to be evaluated by nine distinct phenotyping domains within this large-scale project known as the TMGC. Our goal is to create mutant lines that model human diseases and disease syndromes and to make the mutant mice available to the scientific research community. Within the eye domain, mice are screened for anterior and posterior segment abnormalities using slit-lamp biomicroscopy, indirect ophthalmoscopy, fundus photography, eye weight, histology, and immunohistochemistry. As of January 2005, we have screened 958 pedigrees and 4800 mice, excluding those used in mapping studies. We have thus far identified seven pedigrees with primary ocular abnormalities. Six of the mutant pedigrees have retinal or subretinal aberrations, while the remaining pedigree presents with an abnormal eye size. Continued characterization of these mutant mice should in most cases lead to the identification of the mutated gene, as well as provide insight into the function of each gene. Mice from each of these pedigrees of mutant mice are available for distribution to researchers for independent study.

AB - The Tennessee Mouse Genome Consortium (TMGC) is in its fifth year of a ethylnitrosourea (ENU)-based mutagenesis screen to detect recessive mutations that affect the eye and brain. Each pedigree is tested by various phenotyping domains including the eye, neurohistology, behavior, aging, ethanol, drug, social behavior, auditory, and epilepsy domains. The utilization of a highly efficient breeding protocol and coordination of various universities across Tennessee makes it possible for mice with ENU-induced mutations to be evaluated by nine distinct phenotyping domains within this large-scale project known as the TMGC. Our goal is to create mutant lines that model human diseases and disease syndromes and to make the mutant mice available to the scientific research community. Within the eye domain, mice are screened for anterior and posterior segment abnormalities using slit-lamp biomicroscopy, indirect ophthalmoscopy, fundus photography, eye weight, histology, and immunohistochemistry. As of January 2005, we have screened 958 pedigrees and 4800 mice, excluding those used in mapping studies. We have thus far identified seven pedigrees with primary ocular abnormalities. Six of the mutant pedigrees have retinal or subretinal aberrations, while the remaining pedigree presents with an abnormal eye size. Continued characterization of these mutant mice should in most cases lead to the identification of the mutated gene, as well as provide insight into the function of each gene. Mice from each of these pedigrees of mutant mice are available for distribution to researchers for independent study.

UR - http://www.scopus.com/inward/record.url?scp=26244462607&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=26244462607&partnerID=8YFLogxK

U2 - 10.1017/S0952523805225087

DO - 10.1017/S0952523805225087

M3 - Article

VL - 22

SP - 595

EP - 604

JO - Visual Neuroscience

JF - Visual Neuroscience

SN - 0952-5238

IS - 5

ER -