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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
 
Mutation detailsThe 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:
Phenotypes:
Affected Systems
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
IDs
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 Smn1tm1Hung 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)

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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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory