N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: An animal model for human carbonic anhydrase II deficiency syndrome

Journal Article · Tue Mar 01 04:00:00 EST 1988 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.85.6.1962· OSTI ID:6831676

Lewis, S E; Barnett, L B ^[1]; Erickson, R P; Venta, P J; Tashian, R E ^[2]

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1. Research Triangle Institute, Research Triangle Park, NC (USA)
2. Univ. of Michigan Medical School, Ann Arbor (USA)

Electrophoretic screening of (C57BL/6J x DBA/2J)F{sub 1} 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 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.

• OSTI ID: 6831676
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (USA) Vol. 85:6; ISSN 0027-8424; ISSN PNASA
• Country of Publication: United States
• Language: English

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560300* -- Chemicals Metabolism & Toxicology
62 RADIOLOGY AND NUCLEAR MEDICINE
63 RADIATION, THERMAL, AND OTHER ENVIRON. POLLUTANT EFFECTS ON LIVING ORGS. AND BIOL. MAT.
ANIMAL GROWTH
ANIMALS
BIOLOGICAL EFFECTS
BIOLOGICAL MATERIALS
BIOLOGICAL WASTES
BIOMEDICAL RADIOGRAPHY
BODY
BODY FLUIDS
CARBON-OXYGEN LYASES
CARBONIC ANHYDRASE
DIAGNOSTIC TECHNIQUES
DISEASES
ELECTROPHORESIS
ENZYMES
GENETIC EFFECTS
GROWTH
HEREDITARY DISEASES
HYBRIDIZATION
HYDRO-LYASES
ISOENZYMES
KIDNEYS
LYASES
MALES
MAMMALS
MATERIALS
MEDICINE
MICE
MOLECULAR BIOLOGY
MUTATIONS
NITROSO COMPOUNDS
NITROSOUREAS
NUCLEAR MEDICINE
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
ORGANS
PATHOGENESIS
PH VALUE
RADIOLOGY
RODENTS
URINE
VERTEBRATES
WASTES