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Phenotypes Associated with This Genotype
Genotype
MGI:7280953
Allelic
Composition
Tsc1tm1Djk/Tsc1tm1Djk
Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic
Background
involves: 129S4/SvJae * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Col2a1-cre/ERT)KA3Smac mutation (1 available)
Tsc1tm1Djk mutation (2 available); any Tsc1 mutation (71 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• at P21 and P60
• at P21 and P60

skeleton
• immature bony structure is seen at P60
• classic structure is absent at 4 and 8 weeks of age
• at 1 week of age the primary ossification center is abnormal
• absent at 4 and 8 weeks of age
• chrondrogenesis is elevated in the growth plate but hypertrophic chondrocytes are rare
• at 4 and 8 weeks of age
• disk height is reduced at 4 and 8 weeks of age
• smaller and shorter
• loss of intervertebral space and congenital spinal canal stenosis
• treatment with rapamycin by daily gavage for 4 weeks rescues the spinal deformity
• micro-CT analysis suggests enhanced thickness
• micro-CT analysis suggest enhanced density of the trabecular bone

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spinal disease DOID:0060564 J:273713


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
12/10/2024
MGI 6.24
The Jackson Laboratory