The Iasi hereditary jaundice mutation provides a model of Type 1 Spherocytosis.
Dr. Luanne Peters, The Jackson Laboratory
Dr. Marius Cirlan, Apollonia University, Iasi, Romania
Although normal in appearance at birth, homozygotes are smaller than normal by 2 days of age and there is a high rate of neonatal death and death during the first weeks of life and at wean age with some homozygotes surviving to adulthood. Those that survive to adulthood generally do not survive beyond one year. Pups have delayed hair growth such that the coat does not come in until 8 to 10 days of age. The skin, nails and mucosa have an orange pallor that persists throughout life and the feces are soft and also orange in color. Central phenotypes include hemolytic anemia, microspherocytosis, anisopoikilocytosys, polychromatophily, bilirubinemia, and splenomegaly with mild follicular hyperplasia. Although the spleen is of normal size at birth, at death adult splenic weight is three times normal and the architecture is disrupted. This is sometimes accompanied by hepatomegaly. The kidneys are discolored and have mild tubulonephrosis. Female homozygotes rarely become pregnant and do not survive birth nor do their pups.
The Iasi hereditary jaundice mutation arose spontaneously in the laboratory of Dr. Marius Cirlan in the Apollonia University, Iasi, Romania, in approximately 2006 in the F2 progeny of HRS/J and LAH/Pas. In 2006 this mutation on this mixed background was imported into the laboratory of Dr. Luanne Peters at The Jackson Laboratory and was immediately backcrossed onto the C57BL/6J background. In 2010 sperm was cryopreserved from heterozygous males at generation N10F2.
|Allele Name||Iasi hereditary jaundice|
|Gene Symbol and Name||Spta1, spectrin alpha, erythrocytic 1|
|Strain of Origin||(HRS/J x LAH)F1|
|Molecular Note||This spontaneous mutation is a C-to-T transition in exon 39 that changes glutamine 1853 in repeat 18 to a stop codon (p.Q1853*).|
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