References
Query Results -- Details
MGI Accession ID: MGI:67563
J Number: J:19268
Other Accession IDs:
Title: N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.
Authors: Lewis SE; Erickson RP; Barnett LB; Venta PJ; Tashian RE
Journal: Proc Natl Acad Sci U S A
Volume: 85
Issue: 6
Date: 1988 Mar
Year: 1988
Pages: 1962-6
Review Status: Peer Reviewed
Abstract:
Electrophoretic screening of (C57BL/6J x DBA/2J)F1 progeny of male mice treated with N-ethyl-N-nitrosourea revealed a mouse that lacked the paternal carbonic anhydrase II (CA II). Breeding tests showed that this trait was heritable and due to a null mutation at the Car-2 locus on chromosome 3. Like humans with the same inherited enzyme defect, animals homozygous for the new null allele are runted and have renal tubular acidosis. However, the prominent osteopetrosis found in humans with CA II deficiency could not be detected even in very old homozygous null mice. A molecular analysis of the deficient mice shows that the mutant gene is not deleted and is transcribed. The CA II protein, which is normally expressed in most tissues, could not be detected by immunodiffusion analysis in any tissues of the CA II-deficient mice, suggesting a nonsense or a missense mutation at the Car-2 locus.
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