Neuro-Developmental Disease Models and Efficacy Studies

JAX offers a robust portfolio of well-characterized neurodevelopmental mouse models, including models for Rett, Angelman, and Dravet syndromes, supporting research into epileptic phenotypes and developmental and epileptic encephalopathies (DEEs).

Pair these models with JAX's Preclinical Services to accelerate efficacy studies and move therapeutics forward faster.

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The Jackson Laboratory - Neurodevelopmental Disease Models and Efficacy Studies

JAX Neurodevelopmental Epileptic Models

Common Strain Name Disease	Gene Target	Phenotype	Disease Latency
Mecp2^- (003890) Rett Syndrome	Mecp2	Hemizygous males Abnormal gait (3-8 weeks) Hypoactivity (3-8 weeks) Hindlimb clasping (5-6 weeks) Apneas (7 weeks) Increased susceptibility to seizures (8 weeks) Shortened survival (9 weeks)	Heterozygous females Abnormal gait (4.5 months) Hypoactivity (2-3 months) Hindlimb clasping (3 months) Apneas (6 months) Increased susceptibility to seizures (6 months)	1 month (males) 3 months (females)
B6 AS (016590) Angelman's Syndrome	Ube3a	Abnormal locomotion Reduced motor coordination Increased induced seizures		3 months

Common Strain Name

Disease

Gene Target

Phenotype

Disease Latency

Mecp2^-
(003890)
Rett Syndrome

Mecp2

Hemizygous males

Abnormal gait (3-8 weeks)
Hypoactivity (3-8 weeks)
Hindlimb clasping (5-6 weeks)
Apneas (7 weeks)
Increased susceptibility to seizures (8 weeks)
Shortened survival (9 weeks)

Heterozygous females

Abnormal gait (4.5 months)
Hypoactivity (2-3 months)
Hindlimb clasping (3 months)
Apneas (6 months)
Increased susceptibility to seizures (6 months)

1 month (males)
3 months (females)

B6 AS
(016590)
Angelman's Syndrome

Ube3a

Abnormal locomotion
Reduced motor coordination
Increased induced seizures

3 months

JAX Preclinical Services

Your Partner in Neurodevelopmental and Epilepsy Research

Partner with JAX Preclinical Services to offload the complexity of your neurodevelopmental research. JAX brings deep scientific expertise and expert colony management, with study endpoints including:

Phenotypic (Bird) score: Qualitative assessment of mobility, gait, hindlimb clasping, tremors, and breathing, along with body weight and clinical observation
Whole Body Plethysmography (WBP): Measures apnea
Electroconvulsive Threshold (ECT): Assesses induced seizure susceptibility
Open Field, Rotarod, and Gait Analysis: Measures locomotion

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Customizable Preclinical Efficacy Studies for Neurodevelopmental and Epilepsy Disorders Research

Study variables differ depending on your model of choice and research needs. Below is a sample study:

Timeline	Can vary, depending on study model
Groups	Typical n per group: n=12, single sex
In Vivo Readouts	Daily Adult Dosing or ONE neonatal ICV injection Weekly Bird Score Clinical Observation One Timepoint Whole Body Plethysmography Optional Open Field Seizure Susceptibility
Post-mortem	Tissue Collection (including DRGs) Cardiac Puncture (serum/plasma) Data Summary Sample Shipment Optional Time-to-humane endpoint Daily clinical observation Body weight and Bird score

Sample of Efficacy Study Data

B6.129P2(C)-Mecp2^tm1.1Bird/J (003890) Hemizygous Male

Apnea Quantification: Count per 10-minute interval

B6.129P2(C)-Mecp2tm1.1Bird/J (003890) Hemizygous Male - Electroconvulsive Threshold (6 weeks)

B6.129P2(C)-Mecp2tm1.1Bird/J (003890) Hemizygous Male - Seizure Activity (stimulas of 7.5mA; 6 weeks)

JAX Envision™

Detect subtle phenotypic changes and reduce study variability with our advanced automated research-ready vision-based platform. Discover how validated digital measures of individual animal activity can detect what other methods miss.

Learn more about Envision

FAQs for Neurodevelopmental Models and Studies

What is JAX's expertise with running preclinical studies using mouse models of neurodevelopmental disease?

What routes of administration does JAX have expertise in?

Selecting and Using Mouse Models in Neurodevelopmental Drug Discovery

Access our webinar to hear from JAX's In Vivo Services team on insights from extensive neurobiology drug discovery studies conducted by JAX for both academic and commercial clients. The webinar will cover the underlying biology of various neurodevelopmental mouse models, the translatability of their phenotypes, and optimized usage for producing clinically predictive data in drug development.

Watch Now: Insights from JAX's Drug Discovery Studies

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