Rare Disease Research

Rare Disease Mouse Models

Since 1998, ingenious targeting laboratory has supported rare disease researchers with custom mouse models for studying disease mechanisms and developing therapeutics. Our rare disease models have contributed to research on lysosomal storage disorders, metabolic diseases, neurodegenerative conditions, and hundreds of other genetic diseases, with results published in peer reviewed journals and supporting therapeutic development for underserved patient populations.

With over 7,000 rare diseases affecting an estimated 300 million people worldwide, mouse models provide essential platforms for developing therapies for conditions that have historically lacked treatment options.

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7,000+

Known Rare Diseases

300M

Patients Worldwide

26+

Years Experience

100%

Success Rate

Modeling Rare Genetic Diseases

Patient Mutation Knockins

The most translationally relevant rare disease models express the exact mutations found in patients:

Point mutations: Single nucleotide changes causing missense, nonsense, or splice site alterations
Small insertions/deletions: Frameshift or in frame modifications
Repeat expansions: Trinucleotide or other repeat disorders
Regulatory mutations: Changes affecting gene expression

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Gene Knockout Models

Complete loss of function models represent severe disease alleles:

Null alleles: Complete absence of gene product
Conditional knockouts: Enable tissue specific or temporal gene deletion
Hypomorphic alleles: Reduced but not absent gene function

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Rare Disease Categories

Lysosomal Storage Disorders

Deficiencies in lysosomal enzymes cause accumulation of substrates:

Disease	Gene	Mutation Types	Model Applications
Gaucher disease	GBA1	Point mutations, null	ERT, SRT, gene therapy
Fabry disease	GLA	Point mutations, deletions	ERT, chaperone therapy
Pompe disease	GAA	Point mutations, splice	ERT, gene therapy
MPS I (Hurler)	IDUA	Point mutations, null	ERT, gene therapy
MPS II (Hunter)	IDS	Point mutations, deletions	ERT, gene therapy
Niemann Pick C	NPC1/NPC2	Point mutations	Small molecule, gene therapy

Neuromuscular Diseases

Genetic defects affecting muscle or neuromuscular junction:

Disease	Gene	Mutation Types	Model Applications
Duchenne MD	DMD	Deletions, point mutations	Exon skipping, gene therapy
Spinal muscular atrophy	SMN1/SMN2	Deletions, point mutations	ASO, gene therapy
ALS (familial)	SOD1, C9orf72	Point mutations, repeats	Small molecule, ASO
Charcot Marie Tooth	PMP22, MFN2	Duplications, point mutations	Gene therapy

Neurological Rare Diseases

Genetic conditions affecting the nervous system:

Disease	Gene	Mutation Types	Model Applications
Huntington disease	HTT	CAG repeat expansion	ASO, gene silencing
Friedreich ataxia	FXN	GAA repeat expansion	Gene therapy
Rett syndrome	MECP2	Point mutations, deletions	Gene therapy
Angelman syndrome	UBE3A	Deletions, point mutations	ASO, gene therapy

Applications in Therapeutic Development

Gene Therapy Testing

•AAV mediated gene replacement efficacy
•Dose response and biodistribution studies
•Long term expression durability
•Safety and immunogenicity assessment

Antisense Oligonucleotide Development

•Humanized target sequences for human specific ASOs
•Splice modulation efficacy testing
•Gene knockdown approaches
•Pharmacokinetic and pharmacodynamic studies

Enzyme Replacement Therapy

•Efficacy of recombinant enzyme administration
•Tissue distribution and uptake
•Substrate reduction assessment
•Dosing regimen optimization

Small Molecule Development

•Pharmacological chaperone efficacy
•Substrate reduction therapy
•Read through compounds for nonsense mutations
•Enzyme activators or stabilizers

Selected Publications

Rare disease models generated by ingenious targeting laboratory:

Chakrabarti S et al. (2024).

Touch sensation requires the mechanically gated ion channel ELKIN1. ↗

Science 383(6686): 992-998

Vacher CM et al. (2021).

Placental endocrine function shapes cerebellar development and social behavior. ↗

Nature Neuroscience 24(10): 1392-1401

Clausen BE et al. (1999).

Conditional gene targeting in macrophages and granulocytes using LysMcre mice. ↗

Transgenic Research 8(4): 265-277

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What Researchers Say

“The Hephaestin flox model ingenious has made for us has been great. It has helped generate eight research publications.”

— Joshua Dunaief, PhD, MD

University of Pennsylvania

Start Your Rare Disease Model Project

Our scientific consultants are ready to discuss your rare disease research requirements and recommend the optimal model design for your program. Initial consultation is provided at no charge and includes mutation analysis, model strategy recommendations, and timeline estimates. We have experience working with patient foundations and academic collaborations.

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✦ New for 2026

Breeding Scheme Architect

Plan complex multi-allele breeding strategies, calculate expected genotype ratios, and estimate time to experimental cohorts—all before starting your project.

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Visualize multi-generation breeding paths

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Calculate Mendelian ratios automatically

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Estimate timeline to study-ready cohorts

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Free Research Tool

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Allele 1Gene-flox (conditional)

Allele 2Cre-driver (tissue-specific)

TargetHomozygous knockout

→ 3 generations to target genotype

Frequently Asked Questions

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Rare Disease Research Insights

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