All Phenotypes Smn1<tm1.1Jme> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smn1^tm1.1Jme/Smn1^tm1.1Jme	involves: 129 * C57BL/6 * SJL	MGI:3721429
ht2	Smn1^tm1.1Jme/Smn1⁺	involves: 129 * C57BL/6 * SJL	MGI:3721428
cn3	Smn1^tm1Jme/Smn1^tm1.1Jme Tg(Eno2-cre)39Jme/0	involves: 129 * C57BL/6J * SJL	MGI:3721431
cn4	Smn1^tm1Jme/Smn1^tm1.1Jme Tg(ACTA1-cre)79Jme/0	involves: 129 * C57BL/6J * SJL	MGI:3721894

Allelic Composition	Smn1^tm1.1Jme/Smn1^tm1.1Jme
Genetic Background	involves: 129 * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1^tm1.1Jme mutation (1 available); any Smn1 mutation (86 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality, complete penetrance ( J:61396 )

• at 9 days post-coitum, all of homozygous embryos were resorbed, indicating embryonic lethality during early development

• no live born mice were obtained by heterozygous cross

Allelic Composition	Smn1^tm1.1Jme/Smn1⁺
Genetic Background	involves: 129 * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1^tm1.1Jme mutation (1 available); any Smn1 mutation (86 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:61396 )

• gained weight normally and have remained indistinguishable from wild-type up to 12 months of age

• histological examination of skeletal muscle did not show any morphological changes

Allelic Composition	Smn1^tm1Jme/Smn1^tm1.1Jme Tg(Eno2-cre)39Jme/0
Genetic Background	involves: 129 * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1^tm1.1Jme mutation (1 available); any Smn1 mutation (86 available)
Smn1^tm1Jme mutation (3 available); any Smn1 mutation (86 available)
Tg(Eno2-cre)39Jme mutation (2 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:61396 )

• extremely reduced life expectancy, dying at a mean age of 25 days

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:61396 )

• severe motor defect evident at 2 weeks of age

impaired righting response ( J:61396 )

tremors ( J:61396 )

• evident at 2 weeks of age

abnormal limb posture ( J:61396 )

• abnormal posture of the hindlimbs

muscle

abnormal skeletal muscle fiber morphology ( J:61396 )

• presence of groups of atrophic muscle fibers and angular fibers intermixed with normal-size fibers

hypotonia ( J:61396 )

• severe hypotonia characterized by a defect of flexor muscles of the limbs and neck when suspended on a horizontal thread

nervous system

abnormal motor neuron morphology ( J:61396 )

• pronounced morphological changes of nuclei of motor neurons

• the presence of indentations of the nuclear membrane

• no significant loss of motor neurons of the anterior horns was detected in 2-weeks old mutant mice

abnormal motor neuron innervation pattern ( J:61396 )

• presence of a marked extrajunctional labeling of acetylcholine receptors indicating a denervation of skeletal muscle of neurogenic orgin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Werdnig-Hoffmann disease		DOID:13137	OMIM:253300	J:61396

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:67884 )

• extremely reduced life expectancy, dying at a mean age of 33 days

behavior/neurological

abnormal limb posture ( J:67884 )

• in 4 weeks old mutant mice

abnormal locomotor behavior ( J:67884 )

• reduced spontaneous and induced motor activity after 3 weeks of age

paralysis ( J:67884 )

• severe muscle paralysis after 3 weeks of age

skeleton

kyphosis ( J:67884 )

• severe kyphosis after 3 weeks of age

muscle

skeletal muscle necrosis ( J:67884 )

• in 4-weeks-old mutant mice

abnormal skeletal muscle fiber morphology ( J:67884 )

• infiltration of connective tissue with mononuclear cells, and regenerating myocytes in 4-weeks-old mutant mice

• the morphology of skeletal muscle from mutant mice was similar to that of control at 3 weeks of except the presence of some rare necrotic muscle fibers surrounded by mononuclear cell infiltration

increased variability of skeletal muscle fiber size ( J:67884 )

• excessive variation in fiber size

centrally nucleated skeletal muscle fibers ( J:67884 )

• large central nuclei in 4-weeks-old mutant mice

abnormal muscle physiology ( J:67884 )

• based on immunological examination, mutant mice display destabilization of the sarcolemma indicated by increased serum creatine kinase activity, abnormal uptake of a membrane impermeant molecule, and patchy or lacking dystrophin

nervous system

nervous system phenotype ( J:67884 )

N	• the morphology of motor neurons was similar to that of control and no significant loss of motor neurons of the anterior horns was detected in mutant mice at 4 weeks of age

homeostasis/metabolism

increased circulating creatine kinase level ( J:67884 )

cellular

skeletal muscle necrosis ( J:67884 )

• in 4-weeks-old mutant mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Werdnig-Hoffmann disease		DOID:13137	OMIM:253300	J:67884

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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