Greg Cox, Ph.D.

Associate Professor

Studies the genetics of degenerative muscle diseases using mouse models for SMA, ALS, muscular dystrophy and more.

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About Greg Cox, Ph.D.

Our lab uses mouse models to identify the molecular pathways underlying degenerative motor neuron diseases in humans, such as spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease). We cloned the gene for neuromuscular degeneration in a mouse model for a lethal infantile form of SMA known as spinal muscular atrophy with respiratory distress. In addition, we are studying genetic background effects on onset and progression of ALS symptoms in the mouse model in hopes that these will provide novel targets for therapy.

We are also studying mice with degenerative muscle diseases that are models for specific forms of muscular dystrophy in humans. We cloned a genetic defect and have localized the mutation to the muscle-specific titin gene, the largest known coding gene in the mammalian genome. The mouse strain is a novel model of progressive muscular dystrophy. We also identified the mutation for a new form of rostrocaudal muscular dystrophy that affects skeletal muscle tissues with an unusual front-to-back severity of symptoms. We now have an excellent model for this childhood disorder to learn about the molecular causes of disease and to test for potential therapeutic strategies.

Grants, honors and accomplishments

1994 - Distinguished Dissertation Award, University of Michigan. 1994–1995 NIH Developmental Genetics Postdoctoral Training Grant, The Jackson Laboratory.

1991–1993 - National Science Foundation (NSF) Predoctoral Fellowship, U Michigan.

1989–1990 - NIH Predoctoral Genetics Training Grant, University of Michigan.

1988 - Fred Telonicher Memorial Award, Humboldt State University.

Selected Publications

Highlighted Abstract

Genetic background significantly affects phenotype in multiple mouse models of human diseases, including muscular dystrophy. This phenotypic variability is partly attributed to genetic modifiers that regulate the disease process. Studies have demonstrated that introduction of the γ-sarcoglycan-null allele onto the DBA/2J background confers a more severe muscular dystrophy phenotype than the original strain, demonstrating the presence of genetic modifier loci in the DBA/2J background. To characterize the phenotype of dystrophin deficiency on the DBA/2J background, we created and phenotyped DBA/2J-congenic Dmdmdx mice (D2-mdx) and compared them with the original, C57BL/10ScSn-Dmdmdx (B10-mdx) model. These strains were compared with their respective control strains at multiple time points between 6 and 52 weeks of age. Skeletal and cardiac muscle function, inflammation, regeneration, histology and biochemistry were characterized. We found that D2-mdx mice showed significantly reduced skeletal muscle function as early as 7 weeks and reduced cardiac function by 28 weeks, suggesting that the disease phenotype is more severe than in B10-mdx mice. In addition, D2-mdx mice showed fewer central myonuclei and increased calcifications in the skeletal muscle, heart and diaphragm at 7 weeks, suggesting that their pathology is different from the B10-mdx mice. The new D2-mdx model with an earlier onset and more pronounced dystrophy phenotype may be useful for evaluating therapies that target cardiac and skeletal muscle function in dystrophin-deficient mice. Our data align the D2-mdx with Duchenne muscular dystrophy patients with the LTBP4 genetic modifier, making it one of the few instances of cross-species genetic modifiers of monogenic traits.

View full list of publications

Search MagazineJune 26, 2017
Meet the muscle man
Neuromuscular diseases start by hampering mobility and progress to threatening vital processes like breathing and swallowing. Greg Cox wants to knock them all out.
Search MagazineApril 13, 2016
Thinking about thinking
Professor Robert Burgess, Ph.D., researches neurological disorders such as autism at The Jackson Laboratory.
Press ReleaseAugust 03, 2015
$1.5 million gift to The Jackson Laboratory establishes Sims Family Fund for SMARD Research
A $1.5 million gift to The Jackson Laboratory (JAX) from Mr. Grant Sims and Ms. Patricia (Patty) Sims of Houston, Texas, will fund research in a rare, life-threatening motor disorder: spinal muscular atrophy with respiratory distress, or SMARD.
Search MagazineJuly 01, 2011
Finding a way to give
Huntington's disease hasn't stopped Cathy Alley from pursuing her passion for live music or supporting the search for cures for her disease.

Search MagazineJune 20, 2017
Genetic self-discovery
Cortney Lavorgna is a college student who is exploring the neuromuscular disease she lives with in a JAX research experience.
Research HighlightFebruary 26, 2016
Hyperactive Somatostatin Interneurons
The processes leading to many neurodegenerative diseases remain unknown despite intense research scrutiny. For example, we still don’t know why, in some people, enough neural cells die to impair movement (in neuromuscular diseases such as amyotrophic lateral sclerosis (ALS)) and cognition (in neurodegenerative diseases such as Alzheimer’s and other dementias).
- Neurodegenerative Disease
- Neurodegenerative and Neuromuscular Diseases
Search MagazineOctober 01, 2011
Climbing for Silas
Gus La Casse attracts pledges for SMARD research at The Jackson Laboratory.