- abnormal retina morphology / MGI
- abnormal retinal inner nuclear layer morphology / MGI
- abnormal retinal ganglion layer morphology / MGI
- abnormal cerebral cortex morphology / MGI
- abnormal hippocampus morphology / MGI
- abnormal brain morphology / MGI
- abnormal lysosome morphology / MGI
- abnormal brainstem morphology / MGI
- abnormal basal ganglion morphology / MGI
- abnormal dendritic cell physiology / MGI
- abnormal macrophage physiology / MGI
- abnormal cell adhesion / MGI
- abnormal professional antigen presenting cell morphology / MGI
- decreased macrophage cytokine production / MGI
B6.129S6-Cln3tm1Nbm/H
Status | Available to order |
EMMA ID | EM:06145 |
International strain name | B6.129S6-Cln3tm1Nbm/H |
Alternative name | Cln3tm1Nbm |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Cln3tm1Nbm |
Gene/Transgene symbol | Cln3 |
Information from provider
Provider | Hannah Mitchison |
Provider affiliation | Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health |
Genetic information | Cln3 exon 1 (including the start codon) and exons 2-6 replaced with a 1.9-kb HindIII fragment containing a PGK promoter-neomycin resistance-PGK-polyA signal cassette cloned in the reverse orientation. |
Phenotypic information | Mice maintained on C57BL/6 congenic background over many generations and one rederivation. |
Breeding history | These mice are derived from a congenic C57BL/6 mouse obtained from a collaborator. Rederived (2010), and maintained on C57BL/6 since. Congenic for the last 10 years. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Animals used for archiving | homozygous C57BL/6J |
Breeding at archiving centre | Males were archived upon arrival. No breeding was performed at the archiving centre. |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- CLN3 disease / Orphanet_228346
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- abnormal liver morphology / MGI
- abnormal hepatocyte morphology / MGI
- tremors / MGI
- abnormal cerebral cortex morphology / MGI
- abnormal hippocampus morphology / MGI
- abnormal dentate gyrus morphology / MGI
- abnormal cerebellar Purkinje cell layer / MGI
- abnormal retina morphology / MGI
- retinal degeneration / MGI
- decreased retinal photoreceptor cell number / MGI
- impaired coordination / MGI
- abnormal gait / MGI
- short stride length / MGI
- polydipsia / MGI
- limb grasping / MGI
- polyuria / MGI
- premature death / MGI
- abnormal kidney morphology / MGI
- abnormal brain morphology / MGI
- abnormal fertility/fecundity / MGI
- gliosis / MGI
- abnormal dendritic cell physiology / MGI
- abnormal macrophage physiology / MGI
- increased susceptibility to pharmacologically induced seizures / MGI
- decreased urine osmolality / MGI
- no phenotypic analysis / MGI
- abnormal locomotor activation / MGI
- abnormal cell adhesion / MGI
- abnormal nervous system morphology / MGI
- abnormal retinal inner nuclear layer morphology / MGI
- abnormal postnatal subventricular zone morphology / MGI
- abnormal lysosome morphology / MGI
- abnormal retinal ganglion layer morphology / MGI
- abnormal brainstem morphology / MGI
- renal/urinary system phenotype / MGI
- behavior/neurological phenotype / MGI
- decreased urine potassium level / MGI
- increased circulating potassium level / MGI
- abnormal basal ganglion morphology / MGI
- abnormal retinal neuronal layer morphology / MGI
- abnormal retinal ganglion cell morphology / MGI
- abnormal professional antigen presenting cell morphology / MGI
- increased blood osmolality / MGI
- abnormal hippocampus pyramidal cell morphology / MGI
- decreased macrophage cytokine production / MGI
Literature references
- Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected].;Mitchison H M, Bernard D J, Greene N D, Cooper J D, Junaid M A, Pullarkat R K, de Vos N, Breuning M H, Owens J W, Mobley W C, Gardiner R M, Lake B D, Taschner P E, Nussbaum R L, ;1999;Neurobiology of disease;6;321-34; 10527801
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