- 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
129.Cg-Smpd3fro/Orl
Status | Available to order |
EMMA ID | EM:01747 |
International strain name | 129.Cg-Smpd3fro/Orl |
Alternative name | fro (fragilitas ossium) |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Smpd3fro, |
Gene/Transgene symbol | Smpd3 |
Information from provider
Provider | Jean-Louis Guénet |
Provider affiliation | Institut Pasteur |
Genetic information | The fro allele is a 1758 bp deletion in the last exon (exon 9) of Smpd3 gene. |
Phenotypic information | Mice 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 history | Mixed on different 129 background over 25 years. |
References |
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Information from EMMA
Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
MGI allele-associated human disease models
MGI phenotypes (allele matching)
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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