Tg(SMN2)2Hung
Transgene Detail

Summary

• Symbol: Tg(SMN2)2Hung
• Name: transgene insertion 2, Hung Li
• MGI ID: MGI:3056903
• Synonyms: SMN2⁺
• Transgene: Tg(SMN2)2Hung Location: unknown Genetic Position: Chr4, Syntenic
• Alliance: Tg(SMN2)2Hung page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(SMN2)2Hung expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SMN2 (6607)

  Smn1	(MGI:109257)

• Mutation details: The transgene consists of 115kb of sequence from the SMN BAC clone 7C, including the entire human SMN2 coding region and flanking sequence. Five lines were generated. (J:59313)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
Loading...
cx1	Gt(ROSA)26Sor^tm1.1(CAG-PLS3,-GFP)Bwir/Gt(ROSA)26Sor^+ Smn1^tm1Hung/Smn1^+ Tg(SMN2)2Hung/0	B6N.Cg-Gt(ROSA)26Sor^tm1.1(CAG-PLS3,-GFP)Bwir Smn1^tm1Hung Tg(SMN2)2Hung
cx2	Gt(ROSA)26Sor^tm1.1(CAG-PLS3,-GFP)Bwir/Gt(ROSA)26Sor^+ Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung/0	B6N.Cg-Gt(ROSA)26Sor^tm1.1(CAG-PLS3,-GFP)Bwir Smn1^tm1Hung Tg(SMN2)2Hung
cx3	Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung/0	B6N.Cg-Smn1^tm1Hung Tg(SMN2)2Hung
cx4	Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung/0	FVB.Cg-Smn1^tm1Hung Tg(SMN2)2Hung/J
cx5	Gt(ROSA)26Sor^tm1.1(CAG-PLS3,-GFP)Bwir/Gt(ROSA)26Sor^+ Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung/0	involves: 129P2/OlaHsd * 129S4/SvJae * BALB/cJ * C57BL/6 * FVB/N
cx6	Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung/0	involves: 129P2/OlaHsd * C57BL/6N * FVB/N
cx7  Disease Model	Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung/Tg(SMN2)2Hung	involves: 129P2/OlaHsd * FVB/N

Phenotypes:

Affected Systems	cx1	cx2	cx3	cx4	cx5	cx6	cx7
show or hide all annotated terms
behavior/neurological		√	√		√		√
abnormal motor capabilities/coordination/movement		√	√		√
impaired righting response		√	√		√
hindlimb paralysis							√
cardiovascular system					√	√
abnormal heart morphology					√	√
thin interventricular septum					√	√
small heart					√	√
digestive/alimentary system					√	√
abnormal intestinal mucosa morphology					√	√
abnormal colon morphology					√	√
abnormal small intestine morphology					√	√
abnormal small intestinal villus morphology					√	√
decreased small intestinal villus size					√	√
growth/size/body		√	√		√		√
decreased body size			√
decreased body weight		√	√		√		√
homeostasis/metabolism							√
extremity edema							√
integument							√
hairless							√
limbs/digits/tail							√
abnormal tail morphology							√
short tail							√
tail necrosis							√
thick tail							√
mortality/aging		√	√	√	√	√	√
premature death		√	√	√	√	√	√
postnatal lethality, incomplete penetrance							√
muscle		√	√	√		√	√
abnormal skeletal muscle fiber morphology							√
decreased skeletal muscle fiber size			√	√
decreased skeletal muscle fiber diameter							√
increased skeletal muscle fiber size		√				√	√
decreased skeletal muscle fiber number							√
muscular atrophy							√
nervous system	√	√	√	√	√	√	√
nervous system phenotype					N
abnormal astrocyte morphology							√
abnormal motor neuron morphology	√	√	√				√
decreased motor neuron number							√
abnormal proprioceptive neuron morphology		√	√
abnormal neuromuscular synapse morphology	√	√	√	√		√
abnormal synaptic vesicle morphology						√
abnormal synaptic vesicle number					√
chromatolysis							√
axon degeneration							√
abnormal synaptic vesicle clustering						√
abnormal endplate potential						√
respiratory system					√	√
abnormal lung morphology					√	√
abnormal pulmonary alveolus morphology					√	√
abnormal pulmonary interalveolar septum morphology					√	√
emphysema					√	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cx7
Werdnig-Hoffmann disease IDs Werdnig-Hoffmann disease       DOID:13137 ICD10CM:G12.0 ICD9CM:335.0 MESH:D014897 NCI:C98670 OMIM:253300 UMLS_CUI:C0043116 Close	√

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available

Notes

Five lines were generated.

Hemizygous transgenic mice that are also homozygous for Smn1^tm1Hung display:

• a range of spinal muscular atrophy (SMA)-like pathologies characterized as type 1, type 2, and type 3
  • Type 1 animals do not develop hairy fur, and die before postnatal day 10
  • Type 2 animals exhibit poor activity and variable symptoms, and die at approximately 2-4 weeks
  • Type 3 animals survive to adulthood and are fertile, but have short enlarged tails

• Transgene copy number correlates with the amount of protein that contains the region encoded by exon 7 and the severity of SMA-like phenotypes in these animals

References

• Original: J:59313 Hsieh-Li HM, et al., A mouse model for spinal muscular atrophy. Nat Genet. 2000 Jan;24(1):66-70
• All: 111 reference(s)