Search Criteria: Research Area is "Internal/Organ Research: Kidney Defects (diabetes insipidus)"
| Stock Number |
Strain Name Strain Description |
Standard Supply |
| 002503 | ROP/Le-Os Es1a/+ Es1a/J | Repository- Live |
| This strain originally was maintained segregating for Os and Es1, which are approximately 3 cM apart on Chr 8, such that Os and Es1b occurred in coupling opposite the wild-type Os allele and Es1a. In October 2002, it was discovered that a recombination event between Os and Es1 had resulted in the strain's becoming fixed for Es1a. | ||
| 000566 | B6.Cg-Os +/+ Cacna1atg-la/J | Repository-Cryopreserved |
| Mice homozygous for the leaner spontaneous mutation (Cacna1atg-la) begin to show ataxia, stiffness, and retarded motor activity by 8 to 10 days of age. Many homozygous mutant mice die by weaning age, but some survive, and females may even breed. Homozygous mutant adults are characterized by instability of the trunk and hypertonia of the trunk and limb muscles. Seizures have not been observed. The cerebellum is reduced in size, particularly in the anterior region. There is loss of granule cells beginning at 10 days of age and loss of Purkinje and Golgi cells beginning after 1 month. Leaner/tottering heterozygotes (Cacna1atg-la/Cacna1atg) show ataxia, stiffness, and retarded motor activity at 15 to 17 days of age. Within a few days, they develop a wobbly gait and intermittent focal seizures which continue throughout life. The cerebellum shows shrinkage and degenerative changes of the Purkinje cells. | ||
| 003523 | B6.ROP/Le-Os/J | Repository-Cryopreserved |
| 000125 | B6By.Cg-Sox18Ra Pt Os/J | Repository-Cryopreserved |
| The Sox18Ra and Sox18Ra-J alleles cause a less severe phenotype than the Sox18Ra-Op allele. The Sox18Ra and Sox18Ra-J alleles are similar mutations and give a very similar phenotype. The Sox18Ra allele has been more broadly described in the literature and will be covered here. Heterozygotes are viable and fertile. Heterozygotes have developmentally retarded sinus hair growth apparent at embryonic day 16.5 and retarded development of pelage follicles apparent by embryonic day 17.5. Thus, heterozygotes have slightly shorter vibrissae evident at birth, and can be distinguished at three days of age by their pink skin which, due to the abnormally sparse development of the coat, fails to darken like that of wildtype siblings. A paucity of fur is apparent by nine days of age and persists throughout life. Compared with the wild type pelage, Sox18Ra/+ coats have longer g
..... For more information please see the full descriiption on the strain data sheet | ||
| 005921 | C57BL/6J-Aqp2F204V/J | Repository-Cryopreserved |
| Mice homozygous for this mutation are viable with normal body size and lifespan. Homozygotes are fertile, but females usually die during labor. The predicted valine for phenylalanine substitution at amino acid 204 of the mutant protein (F204V) leads to an enrichment in kidney cells of a normally short-lived, intermediately glycosylated 31 kDa isoform and to a reduction in the mature, glycosylated protein level. The mutant AQP2F204V protein is mis-localized in kidney collecting duct cells, and fails to translocate to the apical cell surface in response to desmopressin. Homozygous mice exhibit excessive water consumption and urination, normal plasma glucose levels, and no glucose in the urine. Mutant mice are unable to concentrate urine and exhibit severe hydronephrosis. The presence of some mature, glycosylated protein and a defective, but not completely absent, desmopressin response in homozygous mutant mice likely permits their survival. Heterozygous mice are viable and fer
..... For more information please see the full descriiption on the strain data sheet | ||
| 000300 | MYD/Le-Os +/+ Largemyd/J | Repository-Cryopreserved |
| 000267 | ROP/GnLeJ | Repository-Cryopreserved |
| The Sox18Ra and Sox18Ra-J alleles cause a less severe phenotype than the Sox18Ra-Op allele. The Sox18Ra and Sox18Ra-J alleles are similar mutations and give a very similar phenotype. The Sox18Ra allele has been more broadly described in the literature and will be covered here. Heterozygotes are viable and fertile. Heterozygotes have developmentally retarded sinus hair growth apparent at embryonic day 16.5 and retarded development of pelage follicles apparent by embryonic day 17.5. Thus, heterozygotes have slightly shorter vibrissae evident at birth, and can be distinguished at three days of age by their pink skin which, due to the abnormally sparse development of the coat, fails to darken like that of wildtype siblings. A paucity of fur is apparent by nine days of age and persists throughout life. Compared with the wild type pelage, Sox18Ra/+ coats have l
..... For more information please see the full descriiption on the strain data sheet | ||
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