129.Cg-Smpd3fro/Orl

Status

Available to order

EMMA IDEM:01747
International strain name129.Cg-Smpd3fro/Orl
Alternative namefro (fragilitas ossium)
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolSmpd3fro
Gene/Transgene symbolSmpd3

Information from provider

ProviderJean-Louis Guénet
Provider affiliationInstitut Pasteur
Genetic informationThe fro allele is a 1758 bp deletion in the last exon (exon 9) of Smpd3 gene.
Phenotypic informationMice are viable and fertile but many individuals die at an early stage of life. Mice are usually runted and have abnormal limbs, especially at birth. Long bones are bent and slightly shorter than normal. They suffer from spontaneous bone breaks and dentinogenesis imperfecta.
Breeding historyMixed on different 129 background over 25 years.
References
  • Fragilitas ossium: a new autosomal recessive mutation in the mouse.;Guenet J L, Stanescu R, Maroteaux P, Stanescu V, ;1981;The Journal of heredity;72;440-1; 6801109
  • Morphological and biochemical studies of a mouse mutant (fro/fro) with bone fragility.;Muriel M P, Bonaventure J, Stanescu R, Maroteaux P, Guénet J L, Stanescu V, ;1991;Bone;12;241-8; 1793673
  • A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse.;Aubin Isabelle, Adams Carolyn P, Opsahl Sibylle, Septier Dominique, Bishop Colin E, Auge Nathalie, Salvayre Robert, Negre-Salvayre Anne, Goldberg Michel, Guénet Jean-Louis, Poirier Christophe, ;2005;Nature genetics;37;803-5; 16025116

Information from EMMA

Archiving centreInstitut de Transgenose, INTRAGENE, Orléans, France

Disease and phenotype information

MGI allele-associated human disease models

MGI phenotypes (allele matching)
  • delayed bone ossification / MGI
  • decreased bone mineral density / MGI
  • abnormal long bone metaphysis morphology / MGI
  • abnormal scapula morphology / MGI
  • abnormal rib morphology / MGI
  • abnormal cartilage development / MGI
  • abnormal tibia morphology / MGI
  • abnormal femur morphology / MGI
  • decreased body length / MGI
  • decreased body size / MGI
  • cyanosis / MGI
  • reduced fertility / MGI
  • respiratory distress / MGI
  • abnormal limb morphology / MGI
  • abnormal limb bone morphology / MGI
  • abnormal fibula morphology / MGI
  • abnormal dentin morphology / MGI
  • abnormal bone mineralization / MGI
  • increased circulating parathyroid hormone level / MGI
  • short femur / MGI
  • increased width of hypertrophic chondrocyte zone / MGI
  • abnormal long bone morphology / MGI
  • abnormal alveolar process morphology / MGI
  • short humerus / MGI
  • bowed tibia / MGI
  • short ulna / MGI
  • bowed ulna / MGI
  • bowed humerus / MGI
  • bowed radius / MGI
  • abnormal pubis morphology / MGI
  • abnormal ischium morphology / MGI
  • short ribs / MGI
  • rib fractures / MGI
  • decreased length of long bones / MGI
  • abnormal osteoblast morphology / MGI
  • abnormal ulna morphology / MGI
  • abnormal humerus morphology / MGI
  • abnormal clavicle morphology / MGI
  • abnormal perichondrium morphology / MGI
  • abnormal epiphyseal plate morphology / MGI
  • abnormal bone ossification / MGI
  • abnormal sternum ossification / MGI
  • decreased survivor rate / MGI
  • decreased bone trabecula number / MGI
  • abnormal periosteum morphology / MGI
  • postnatal lethality, incomplete penetrance / MGI
  • overexpanded pulmonary alveoli / MGI
  • abnormal lipid level / MGI
  • emphysema / MGI
  • abnormal pulmonary alveolus morphology / MGI
  • increased lung compliance / MGI
MGI phenotypes (gene matching)
  • delayed bone ossification / MGI
  • decreased bone mineral density / MGI
  • abnormal long bone metaphysis morphology / MGI
  • abnormal scapula morphology / MGI
  • abnormal rib morphology / MGI
  • abnormal cartilage development / MGI
  • abnormal tibia morphology / MGI
  • abnormal femur morphology / MGI
  • abnormal ovarian follicle morphology / MGI
  • abnormal spermatogenesis / MGI
  • overexpanded pulmonary alveoli / MGI
  • decreased body height / MGI
  • decreased body length / MGI
  • decreased body size / MGI
  • abnormal lipid level / MGI
  • cyanosis / MGI
  • reduced fertility / MGI
  • delayed sexual maturation / MGI
  • respiratory distress / MGI
  • emphysema / MGI
  • abnormal limb morphology / MGI
  • abnormal limb bone morphology / MGI
  • abnormal fibula morphology / MGI
  • abnormal pulmonary alveolus morphology / MGI
  • disproportionate dwarf / MGI
  • abnormal bone mineralization / MGI
  • increased circulating parathyroid hormone level / MGI
  • short femur / MGI
  • increased width of hypertrophic chondrocyte zone / MGI
  • decreased width of hypertrophic chondrocyte zone / MGI
  • abnormal ovary development / MGI
  • abnormal long bone morphology / MGI
  • abnormal testis development / MGI
  • abnormal adenohypophysis morphology / MGI
  • abnormal alveolar process morphology / MGI
  • fetal growth retardation / MGI
  • short humerus / MGI
  • bowed tibia / MGI
  • short ulna / MGI
  • bowed ulna / MGI
  • bowed humerus / MGI
  • bowed radius / MGI
  • abnormal pubis morphology / MGI
  • abnormal ischium morphology / MGI
  • short ribs / MGI
  • rib fractures / MGI
  • decreased length of long bones / MGI
  • decreased circulating insulin-like growth factor I level / MGI
  • abnormal osteoblast morphology / MGI
  • abnormal humerus morphology / MGI
  • abnormal clavicle morphology / MGI
  • decreased thyroxine level / MGI
  • decreased triiodothyronine level / MGI
  • abnormal perichondrium morphology / MGI
  • abnormal epiphyseal plate morphology / MGI
  • abnormal bone ossification / MGI
  • abnormal sternum ossification / MGI
  • decreased somatotroph cell number / MGI
  • decreased gonadotroph cell number / MGI
  • decreased thyrotroph cell number / MGI
  • decreased corticotroph cell number / MGI
  • decreased survivor rate / MGI
  • decreased bone trabecula number / MGI
  • increased lung compliance / MGI
  • abnormal periosteum morphology / MGI
  • postnatal lethality, incomplete penetrance / MGI
  • abnormal pituicyte morphology / MGI
  • decreased circulating cortisol level / MGI
  • abnormal dentin development / MGI
  • abnormal olecranon morphology / MGI

Literature references

  • Fragilitas ossium: a new autosomal recessive mutation in the mouse.;Guenet J L, Stanescu R, Maroteaux P, Stanescu V, ;1981;The Journal of heredity;72;440-1; 6801109
  • Morphological and biochemical studies of a mouse mutant (fro/fro) with bone fragility.;Muriel M P, Bonaventure J, Stanescu R, Maroteaux P, Guénet J L, Stanescu V, ;1991;Bone;12;241-8; 1793673
  • A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse.;Aubin Isabelle, Adams Carolyn P, Opsahl Sibylle, Septier Dominique, Bishop Colin E, Auge Nathalie, Salvayre Robert, Negre-Salvayre Anne, Goldberg Michel, Guénet Jean-Louis, Poirier Christophe, ;2005;Nature genetics;37;803-5; 16025116

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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Practical information

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