ROP/Le-Os Ces1c^a/+ Ces1c^a/J

Stock number: 002503
Research areas: Developmental Biology Research, Internal/Organ Research

Detailed description

This strain originally was maintained segregating for Os and Ces1c, which are approximately 3 cM apart on Chr 8, such that Os and Ces1c^b occurred in coupling opposite the wild-type Os allele and Ces1c^a. In October 2002, it was discovered that a recombination event between Os and Ces1c had resulted in the strain's becoming fixed for Ces1c^a.

Allele

Symbol: Os
Name: Os
MGI accession ID: MGI:1857646
Generation method: Radiation induced
Marker symbol: Os
Marker name: oligosyndactylism
Chromosome: 8
Strain of origin: (101 x C3H)F1
Molecular note: The oligosyndactylism mutation is due to a chromosomal inversion that has breakpoints approximately 10 Mb apart. One breakpoint appears to reside in the Anapc10 gene, and an aberrant transcript consisting of part of Anapc10 and an unrelated sequence is expressed at low levels.
General note: Heterozygotes are affected on all four feet. Fusion usually occurs between the second and third digits and occasionally involves the fourth (J:13049). The muscles of the forearms and lower legs as well as of the feet show anomalous arrangements not necessarily correlated with the skeletal changes (J:12944). At 11 days of gestation the preaxial border of the limbs can be seen to be reduced (J:12942), and a histological examination at this time shows that there is a small amount of cellular degeneration in the preaxial part of the footplate mesoderm, leading to coalescence of the second and third digital rudiments (J:5107). Os /+ mice have a mild diabetes insipidus present at 5 weeks and increasing with age. In combination with one or more recessive modifying genes in the selected DI stock, Os/+ mice have a severe diabetes insipidus (J:12948). The cause of the diabetes is a 45% reduction in size of the kidneys with an 80% reduction in number of glomeruli. Compensatory hypertrophy of the nephrons is not sufficient to restore normal urine-concentrating ability (J:5127)(J:5128).

Allele

MGI accession ID: MGI:95420
Marker symbol: Ces1c
Marker name: carboxylesterase 1C
Chromosome: 8