Smn1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Smn1
survival motor neuron 1
MGI:109257

46 phenotypes from 11 alleles in 11 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Smn1^tm1.1Dscd/Smn1^tm1.1Dscd involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6	decreased grip strength	J:164889
	decreased locomotor activity	J:164889
	decreased vertical activity	J:164889
	increased skeletal muscle fiber size	J:164889
Smn1^tm1.1Jme/Smn1⁺ involves: 129 * C57BL/6 * SJL	no abnormal phenotype detected	J:61396
Smn1^tm1.1Jme/Smn1^tm1.1Jme involves: 129 * C57BL/6 * SJL	embryonic lethality, complete penetrance	J:61396
Smn1^tm1Cdid/Smn1^tm1Cdid involves: 129 * C57BL/6	embryonic growth arrest	J:176267
Smn1^tm1Cdid/Smn1^tm1Cdid involves: 129 * C57BL/6	embryonic lethality during organogenesis, complete penetrance	J:176267
Smn1^tm1Hung/Smn1^tm1Hung involves: 129P2/OlaHsd	embryonic lethality between implantation and somite formation, complete penetrance	J:59313
Smn1^tm1Jme/Smn1^tm1.1Jme Tg(ACTA1-cre)79Jme/0 involves: 129 * C57BL/6J * SJL	abnormal limb posture	J:67884
	abnormal locomotor behavior	J:67884
	abnormal muscle physiology	J:67884
	abnormal skeletal muscle fiber morphology	J:67884
	centrally nucleated skeletal muscle fibers	J:67884
	increased circulating creatine kinase level	J:67884
	increased variability of skeletal muscle fiber size	J:67884
	kyphosis	J:67884
	normal nervous system phenotype	J:67884
	paralysis	J:67884
	premature death	J:67884
	skeletal muscle necrosis	J:67884
Smn1^tm1Jme/Smn1^tm1.1Jme Tg(Eno2-cre)39Jme/0 involves: 129 * C57BL/6J * SJL	abnormal limb posture	J:61396
	abnormal motor capabilities/coordination/movement	J:61396
	abnormal motor neuron innervation pattern	J:61396
	abnormal motor neuron morphology	J:61396
	abnormal skeletal muscle fiber morphology	J:61396
	hypotonia	J:61396
	impaired righting response	J:61396
	premature death	J:61396
	tremors	J:61396
Smn1^tm1Jme/Smn1^tm1Jme involves: 129 * C57BL/6J	no abnormal phenotype detected	J:61396
Smn1^tm1Jme/Smn1^tm1Jme Tg(Eno2-cre)39Jme/0 involves: 129 * C57BL/6J * SJL	abnormal facial nerve morphology	J:89836
	abnormal motor capabilities/coordination/movement	J:89836
	abnormal phrenic nerve morphology	J:89836
	axon degeneration	J:89836
	motor neuron degeneration	J:89836
	premature death	J:89836
	weight loss	J:89836
Smn1^tm1Msd/Smn1^tm1.1Dscd involves: 129S/SvEv * 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6	decreased grip strength	J:164889
	decreased locomotor activity	J:164889
	decreased vertical activity	J:164889
	normal nervous system phenotype	J:164889
Smn1^tm1Msd/Smn1^tm1Msd involves: 129P2/OlaHsd * MF1	abnormal apoptosis	J:42813
	abnormal embryonic tissue morphology	J:42813
	absent blastocoele	J:42813
	embryonic growth retardation	J:42813
	embryonic lethality before implantation, complete penetrance	J:42813
Smn1^tm1Msd/Smn1^tm1Rako involves: 129P2/OlaHsd * C57BL/6 * CD-1	abnormal gait	J:154248
	abnormal spine curvature	J:154248
	decreased body size	J:154248
	decreased motor neuron number	J:154248
	paraparesis	J:154248
	premature death	J:154248
Smn1^tm2Cdid/Smn1^tm2Cdid involves: 129 * C57BL/6	distended pericardium	J:176267
	embryonic growth arrest	J:176267
	embryonic lethality during organogenesis, incomplete penetrance	J:176267
	lethality throughout fetal growth and development, complete penetrance	J:176267
Smn1^tm2Mrph/Smn1^tm2Mrph involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac	embryonic lethality, complete penetrance	J:186987
Smn1^tm2Mrph/Smn1^tm2Mrph involves: 129S6/SvEvTac * C57BL/6NTac	prenatal lethality, complete penetrance	J:135422
Smn1^tm2Mrph/Smn1^{tm4(SMN2)Mrph} involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac	embryonic lethality, complete penetrance	J:186987
Smn1^{tm3(SMN2/Smn1)Mrph}/Smn1^{tm3(SMN2/Smn1)Mrph} involves: 129S6/SvEvTac * C57BL/6NTac	prenatal lethality, complete penetrance	J:135423
Smn1^{tm4(SMN2)Mrph}/Smn1^{tm4(SMN2)Mrph} involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac	embryonic lethality, complete penetrance	J:186987

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