- hypoactivity / MGI
- decreased vertical activity / MGI
- nervous system phenotype / MGI
- decreased grip strength / MGI
- abnormal apoptosis / MGI
- abnormal embryonic tissue morphology / MGI
- absent blastocoele / MGI
- embryonic growth retardation / MGI
- embryonic lethality before implantation, complete penetrance / MGI
- decreased motor neuron number / MGI
- decreased body size / MGI
- abnormal gait / MGI
- premature death / MGI
- abnormal spine curvature / MGI
- paraparesis / MGI
STOCK Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*E134K)1Tlbt/H
Status | Available to order |
EMMA ID | EM:02397 |
International strain name | STOCK Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*E134K)1Tlbt/H |
Alternative name | SMN2 low/SMN E134K |
Strain type | Transgenic Strains |
Allele/Transgene symbol | Grm7Tg(SMN2)89Ahmb, |
Gene/Transgene symbol | Grm7 |
Information from provider
Provider | Nicholas Parkinson |
Provider affiliation | University of Oxford |
Genetic information | This line expresses the human SMNE134K mutation behind the SMN 3.4 kb endogenous promoter. This transgene has been bred as a homozygote onto the SMN2 low line (see Monani et.al., Hum Mol Genet 9 3 2000) which contains a knockout allele of the endogenous Smn locus and is homozygous for the human SMN2 BAC transgenic. |
Phenotypic information | Mice that are homozygous transgenic for SMN2 and SMNE134K and heterozygous or wild-type for the Smn knockout allele have no phenotype. Mice that are homozygous transgenic for SMN2 and SMNE134K and homozygous deleted for the Smn knockout allele die at approximately P0. |
References |
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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
- Proximal spinal muscular atrophy type 3 / Orphanet_83419
- Proximal spinal muscular atrophy type 2 / Orphanet_83418
- Proximal spinal muscular atrophy type 4 / Orphanet_83420
- Proximal spinal muscular atrophy type 1 / Orphanet_83330
- Autosomal recessive non-syndromic intellectual disability / Orphanet_88616
- Early infantile epileptic encephalopathy / Orphanet_1934
MGI phenotypes (allele matching)
Literature references
- The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.;Monani U R, Sendtner M, Coovert D D, Parsons D W, Andreassi C, Le T T, Jablonka S, Schrank B, Rossoll W, Prior T W, Morris G E, Burghes A H, ;2000;Human molecular genetics;9;333-9; 10655541
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