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Disease Model

Rare-disease mouse models

KO / KI / transgenic and conditional strains, cross-referenced to the Rare Disease database and ready to feed into your AAV design.

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All types 8KO 4KI 1Transgenic 1Conditional 2
8 models
Mecp2-KO (B6.129)KO
MECP2 · Rett syndrome · JAX #003890Selected →
Smn1-KI (SMA Δ7)KI
SMN1 · Spinal muscular atrophy · JAX #005025View →
Dmd-mdxTransgenic
DMD · Duchenne muscular dystrophy · JAX #001801View →
Gaa-KOKO
GAA · Pompe disease · In-house breeding colonyView →
Rpe65-KOKO
RPE65 · Leber congenital amaurosis · JAX #006048View →
Mecp2-Flox (conditional)Conditional
MECP2 · Rett syndrome · JAX #006847View →
Dmd-KO (exon 51 del)KO
DMD · Duchenne muscular dystrophy · In-house breeding colonyView →
Gaa-Flox (conditional)Conditional
GAA · Pompe disease · Collaborator-derived colonyView →
Model detail
Mecp2-KO (B6.129)
KO
Strain background
C57BL/6, germline knockout, hemizygous males used for study
Source
JAX #003890
Phenotype

Normal at birth; regression of motor and behavioral function from ~6 weeks, hindlimb clasping, reduced brain weight.

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