Search Criteria: Research Area is "Endocrine Deficiency Research: Bone/Bone Marrow Defects: osteopetrosis"
| Stock Number |
Strain Name Strain Description |
Standard Supply |
| 012862 | B6;129-Slc9a3r1tm1Ssl/J | Cryopreserved - Ready for recovery |
| In this strain exon 1 of the endogenous mouse solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (Slc9a3r1, or Nherf-1) gene is disrupted by a neomycin (neo) resistance cassette, abolishing gene function. No homozygous females are obtained in the first 3 generations of backcrosses. Nherf-1-/- females obtained between F4 and F6 generations have 30-50% reduction in bodyweight over wildtype littermates, show impaired mobility, and some develop hydrocephaly. Most homozygous females die 30-35 days after birth due to reduced bone mineral density. Associated bone fractures are observed. Male homozygotes display an increase in urinary excretion of uric acid, a decrease in serum phosphate concentration, an increase in serum alkaline phosphatase, a 3-fold increase in urinary phosphate excretion, a slight increase in urinary magnesium excretion, but maintain normal overall renal function. Homozygotes also exhibit abnormalities in the targeting and sign ..... For more information please see the full phenotype on the strain data sheet | ||
| 000255 | GL/Le Edardl-J +/+ Ostm1gl/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the grey-lethal spontaneous mutation (Ostm1gl) are characterized by osteopetrosis. Homozygous mutant mice are anemic, have a reduced white cell count, early thymic involution, and deficient calcium regulation. Homozygotes lack the power of secondary bone resorption. Consequently, the bones cannot grow normally, they do not form normal marrow cavities, and the teeth do not erupt. | ||
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