- hyperactivity / IMPC
- impaired righting response / IMPC
- preweaning lethality, complete penetrance / IMPC
- abnormal skin morphology / IMPC
- limb grasping / IMPC
- scaly skin / IMPC
- abnormal spleen morphology / IMPC
- enlarged spleen / IMPC
- decreased hematocrit / IMPC
- increased mean platelet volume / IMPC
- abnormal startle reflex / IMPC
- embryonic lethality prior to organogenesis / IMPC
- decreased anxiety-related response / IMPC
- increased grip strength / IMPC
STOCK Grm7Tg(SMN2)89Ahmb Smg6Tg(SMN1*delta5)1Pks Smn1tm1Msd/H
Status | Available to order |
EMMA ID | EM:02500 |
Citation information | RRID:IMSR_EM:02500 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
International strain name | STOCK Grm7Tg(SMN2)89Ahmb Smg6Tg(SMN1*delta5)1Pks Smn1tm1Msd/H |
Alternative name | SMN Delta 5 /SMN2 low |
Strain type | Transgenic Strains |
Allele/Transgene symbol | Smg6Tg(SMN1*delta5)1Pks, Smn1tm1Msd, Grm7Tg(SMN2)89Ahmb |
Gene/Transgene symbol | Smg6, Smn1, Grm7 |
Information from provider
Provider | Nicholas Parkinson |
Provider affiliation | University of Oxford |
Genetic information | This strain represents the SMN-Delta 5 transgene (EMMA strain EM:02416) bred, as a heterozygote, 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 | Rescues post-natal lethality of SMN2-low strain. |
Breeding history | Animals heterozygous for the SMN-Delta 5 transgene were bred onto the SMN2-low line. |
References |
|
Homozygous fertile | no |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | no |
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
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
- embryonic lethality / MGI
- 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
MGI phenotypes (gene matching)
- convulsive seizures / MGI
- impaired coordination / MGI
- abnormal contextual conditioning behavior / MGI
- seizures / MGI
- hyperresponsive to tactile stimuli / MGI
- abnormal conditioned taste aversion behavior / MGI
- increased susceptibility to pharmacologically induced seizures / MGI
- abnormal excitatory postsynaptic currents / MGI
- nervous system phenotype / MGI
- abnormal spatial working memory / MGI
- increased sensitivity to xenobiotic induced morbidity/mortality / MGI
- no abnormal phenotype detected / MGI
- embryonic growth retardation / MGI
- embryonic lethality / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality at implantation, incomplete penetrance / MGI
- decreased inner cell mass proliferation / MGI
- decreased bone mineral density / MGI
- distended pericardium / MGI
- decreased motor neuron number / MGI
- abnormal neuromuscular synapse morphology / MGI
- epidermal necrosis / MGI
- decreased body size / MGI
- hypoactivity / MGI
- abnormal gait / MGI
- abnormal blood vessel morphology / MGI
- abnormal apoptosis / MGI
- embryonic growth arrest / MGI
- premature death / MGI
- abnormal embryonic tissue morphology / MGI
- no abnormal phenotype detected / MGI
- absent blastocoele / MGI
- hyperresponsive to tactile stimuli / MGI
- decreased vertical activity / MGI
- abnormal endplate potential / MGI
- no phenotypic analysis / MGI
- nervous system phenotype / MGI
- abnormal synaptic transmission / MGI
- enhanced coordination / MGI
- embryonic growth retardation / MGI
- decreased thermal nociceptive threshold / MGI
- abnormal spine curvature / MGI
- abnormal miniature endplate potential / MGI
- decreased heart rate / MGI
- hyperalgesia / MGI
- increased skeletal muscle fiber size / MGI
- decreased skeletal muscle fiber size / MGI
- paraparesis / MGI
- decreased grip strength / MGI
- decreased bone mineral content / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality before implantation, complete penetrance / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- tail necrosis / MGI
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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