TRM: Two Mutant Mice Strains for the Study of Miller–Dieker syndrome (MDS)

Tech ID: 30513 / UC Case 2012-322-0


Miller–Dieker syndrome (MDS), or 17p13.3 deletion syndrome results in human neuronal migration disorders characterized by type 1 lissencephaly sequence (ILS), severe mental retardation and reduced life expectancy. The understanding of these syndromes is often incomplete and is the subject of active research. Researchers have demonstrated that the gene encoding 14-3-3ε (YWHAE), one of a family of ubiquitous phosphoserine/threonine–binding proteins, is always deleted in individuals with MDS. Mice deficient in Ywhae have defects in brain development and neuronal migration, similar to defects observed in mice heterozygous with respect to Pafah1b1

Gene specific transcriptional activation or repression is regulated by a complex network of transcription factors designated the Myc/Max/Mad network. MNT (max binding protein) binds DNA and a heterodimer with MAX and represses transcription and acts as an antagonist of Myc-dependent transcriptional activation and cell growth.

Described below are two mice strains that may be useful in studies of Miller-Dieker Lissencephaly Syndrome generated by the same researcher.

Technology Description

Mice carrying a targeted mutation of Ywhae (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide) exhibit hippocampal defects, neuronal migration abnormalities, and increased apoptosis in the brain (Cat. No. 008715).

The Mntcko (Mnt, max binding protein) mutant mice may also be useful in generating conditional mutations for studies of Miller-Dieker syndrome, embryonic development and craniofacial defects. (Cat. No. 009084)


Both mutant mouse strains may be useful in studies of Miller-Dieker Lissencephaly Syndrome.

State Of Development

The mice are designated Tangible Research Material (TRM). A complete description, including genotyping, phenotyping, etc is found at The Jackson Lab cat. No. 008715,

Information available for the Mntcko mice see Cat. No. 009084,

Intellectual Property Info

Academic and non-profit institutions please order directly from The Jackson Laboratory. Commercial entities require a license from UC San Diego contact (

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Other Information


Miller–Dieker syndrome, YWHAE, 14-3-3e, k/o mice, neurological abnormalities, microdeletions, lissencephaly

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