C57BL/6N-Sptbn2tm1a(EUCOMM)Hmgu/H
Status | Available to order |
EMMA ID | EM:07140 |
International strain name | C57BL/6N-Sptbn2tm1a(EUCOMM)Hmgu/H |
Alternative name | HEPD0662_3_H05 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Sptbn2tm1a(EUCOMM)Hmgu |
Gene/Transgene symbol | Sptbn2 |
Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
Provider | MRC, Medical Research Council |
Provider affiliation | Mary Lyon Centre at MRC Harwell |
Genetic information | This mouse line originates from EUCOMM ES clone HEPD0662_3_H05. For further details on the construction of this clone see the page at the IMPC portal. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Spectrin-associated autosomal recessive cerebellar ataxia / Orphanet_352403
- Spinocerebellar ataxia type 5 / Orphanet_98766
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- tremors / MGI
- Purkinje cell degeneration / MGI
- abnormal Purkinje cell morphology / MGI
- abnormal cerebellar molecular layer / MGI
- thin cerebellar molecular layer / MGI
- increased body weight / MGI
- ataxia / MGI
- impaired coordination / MGI
- abnormal gait / MGI
- impaired balance / MGI
- abnormal nervous system electrophysiology / MGI
- nervous system phenotype / MGI
- clonic seizures / MGI
- behavior/neurological phenotype / MGI
- abnormal Purkinje cell dendrite morphology / MGI
- increased excitatory postsynaptic current amplitude / MGI
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