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Article

Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus.

Genetics - 1 May 2000

Hallsson J H, Favor J, Hodgkinson C, Glaser T, Lamoreux M L, Magnúsdóttir R, Gunnarsson G J, Sweet H O, Copeland N G, Jenkins N A, Steingrímsson E

Abstract excerpt

Mouse microphthalmia transcription factor (Mitf) mutations affect the development of four cell types: melanocytes, mast cells, osteoclasts, and pigmented epithelial cells of the eye. The mutations are phenotypically diverse and can be arranged in an allelic series. In humans, MITF mutations cause...

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Source

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Identifiers

PMID: 10790403
DOI: 10.1093/genetics/155.1.291
PMCID: PMC1461060

Genes

MITF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10790403-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus.PMID 10790403Read ↗

Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform.Semantic proximity Read ↗

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.Semantic proximity Read ↗

Melanocytes and the microphthalmia transcription factor network.Semantic proximity Read ↗

The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins.Semantic proximity Read ↗

Microphthalmia-associated transcription factor (MITF): multiplicity in structure, function, and regulation.Semantic proximity Read ↗

Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells.Semantic proximity Read ↗

Interpretation of complex phenotypes: lessons from the Mitf gene.Semantic proximity Read ↗

Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A.Semantic proximity Read ↗

An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness.Semantic proximity Read ↗

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein.Semantic proximity Read ↗

Novel mechanisms of MITF regulation identified in a mouse suppressor screen.Semantic proximity Read ↗

microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family.Semantic proximity Read ↗

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