Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences

Eiríkur Steingrímsson; Karen J. Moore; M. Lynn Lamoreux; Adrian R. Ferré-D'amaré; Stephen K. Burley; Debra C.Sanders Zimring; Loren C. Skow; Colin A. Hodgkinson; Heinz Arnheiter; Neal G. Copeland; Nancy A. Jenkins

doi:10.1038/ng1194-256

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences

Eiríkur Steingrímsson, Karen J. Moore, M. Lynn Lamoreux, Adrian R. Ferré-D'amaré, Stephen K. Burley, Debra C.Sanders Zimring, Loren C. Skow, Colin A. Hodgkinson, Heinz Arnheiter, Neal G. Copeland, Nancy A. Jenkins

Research output: Contribution to journal › Article › peer-review

461 Scopus citations

Abstract

Mutations in the mouse microphthalmia (mi) gene affect the development of a number of cell types including melanocytes, osteoclasts and mast cells. Recently, mutations in the human mi gene (MITF) were found in patients with Waardenburg Syndrome type 2 (WS2), a dominantly inherited syndrome associated with hearing loss and pigmentary disturbances. We have characterized the molecular defects associated with eight murine mi mutations, which vary in both their mode of inheritance and in the cell types they affect. These molecular data, combined with the extensive body of genetic data accumulated for murine mi, shed light on the phenotypic and developmental consequences of mi mutations and offer a mouse model for WS2.

Original language	English (US)
Pages (from-to)	256-263
Number of pages	8
Journal	Nature genetics
Volume	8
Issue number	3
DOIs	https://doi.org/10.1038/ng1194-256
State	Published - Nov 1994
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics

Access to Document

10.1038/ng1194-256

Cite this

Steingrímsson, E., Moore, K. J., Lamoreux, M. L., Ferré-D'amaré, A. R., Burley, S. K., Zimring, D. C. S., Skow, L. C., Hodgkinson, C. A., Arnheiter, H., Copeland, N. G., & Jenkins, N. A. (1994). Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nature genetics, 8(3), 256-263. https://doi.org/10.1038/ng1194-256

@article{24cb9f3b4ab74a2896bedb788b871f2b,

title = "Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences",

abstract = "Mutations in the mouse microphthalmia (mi) gene affect the development of a number of cell types including melanocytes, osteoclasts and mast cells. Recently, mutations in the human mi gene (MITF) were found in patients with Waardenburg Syndrome type 2 (WS2), a dominantly inherited syndrome associated with hearing loss and pigmentary disturbances. We have characterized the molecular defects associated with eight murine mi mutations, which vary in both their mode of inheritance and in the cell types they affect. These molecular data, combined with the extensive body of genetic data accumulated for murine mi, shed light on the phenotypic and developmental consequences of mi mutations and offer a mouse model for WS2.",

author = "Eir{\'i}kur Steingr{\'i}msson and Moore, {Karen J.} and Lamoreux, {M. Lynn} and Ferr{\'e}-D'amar{\'e}, {Adrian R.} and Burley, {Stephen K.} and Zimring, {Debra C.Sanders} and Skow, {Loren C.} and Hodgkinson, {Colin A.} and Heinz Arnheiter and Copeland, {Neal G.} and Jenkins, {Nancy A.}",

year = "1994",

month = nov,

doi = "10.1038/ng1194-256",

language = "English (US)",

volume = "8",

pages = "256--263",

journal = "Nature genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "3",

}

TY - JOUR

T1 - Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences

AU - Steingrímsson, Eiríkur

AU - Moore, Karen J.

AU - Lamoreux, M. Lynn

AU - Ferré-D'amaré, Adrian R.

AU - Burley, Stephen K.

AU - Zimring, Debra C.Sanders

AU - Skow, Loren C.

AU - Hodgkinson, Colin A.

AU - Arnheiter, Heinz

AU - Copeland, Neal G.

AU - Jenkins, Nancy A.

PY - 1994/11

Y1 - 1994/11

N2 - Mutations in the mouse microphthalmia (mi) gene affect the development of a number of cell types including melanocytes, osteoclasts and mast cells. Recently, mutations in the human mi gene (MITF) were found in patients with Waardenburg Syndrome type 2 (WS2), a dominantly inherited syndrome associated with hearing loss and pigmentary disturbances. We have characterized the molecular defects associated with eight murine mi mutations, which vary in both their mode of inheritance and in the cell types they affect. These molecular data, combined with the extensive body of genetic data accumulated for murine mi, shed light on the phenotypic and developmental consequences of mi mutations and offer a mouse model for WS2.

AB - Mutations in the mouse microphthalmia (mi) gene affect the development of a number of cell types including melanocytes, osteoclasts and mast cells. Recently, mutations in the human mi gene (MITF) were found in patients with Waardenburg Syndrome type 2 (WS2), a dominantly inherited syndrome associated with hearing loss and pigmentary disturbances. We have characterized the molecular defects associated with eight murine mi mutations, which vary in both their mode of inheritance and in the cell types they affect. These molecular data, combined with the extensive body of genetic data accumulated for murine mi, shed light on the phenotypic and developmental consequences of mi mutations and offer a mouse model for WS2.

UR - http://www.scopus.com/inward/record.url?scp=0028091741&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028091741&partnerID=8YFLogxK

U2 - 10.1038/ng1194-256

DO - 10.1038/ng1194-256

M3 - Article

C2 - 7874168

AN - SCOPUS:0028091741

SN - 1061-4036

VL - 8

SP - 256

EP - 263

JO - Nature genetics

JF - Nature genetics

IS - 3

ER -

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences

Abstract

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this