Phenotypes Associated with This Genotype

Genotype
MGI:3609942

• Allelic Composition: Del(1)1Brk/Del(1)1Brk
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * CBA/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

hematopoietic system

abnormal erythrocyte morphology ( J:103440 )

increased erythrocyte cell number ( J:103440 )

decreased hematocrit ( J:103440 )

• the hematocrit of 8 week old mice homozygous for the deletion is about 75% that of wild-type mice

abnormal hemoglobin ( J:103440 )

decreased hemoglobin content ( J:103440 )

• blood of 8 week old mice homozygous for the deletion has a hemoglobin (g/dl) content about 65% that of blood from wild-type mice

decreased mean corpuscular hemoglobin ( J:103440 )

• red blood cells of 8 week old homozygous deletant mice contain only about 41% as much hemoglobin (pg) as RBCs of wild-type mice

decreased mean corpuscular hemoglobin concentration ( J:103440 )

• the hemoglobin concentration in red blood cells from 8 week old homozygous deletant mice is about 82% that of wild-type mice

decreased mean corpuscular volume ( J:103440 )

• 8 week old homozygous deletant mice have a mean RBC volume approximately half that of wild-type mice

anisopoikilocytosis ( J:103440 )

• red blood cells of homozygous deletants vary in shape and size

thrombocytosis ( J:103440 )

• the platelet count of 8 week old homozygous mutant mice is about 3.75 times that of wild-type mice

abnormal reticulocyte morphology ( J:103440 )

• reticulocytes of 8 week old homozygous deletant mice contain less than half the cellular hemoglobin of those from wild-type mice

reticulocytosis ( J:103440 )

• in blood of 8 week old homozygous deletant mice, both the absolute number and the proportion of reticulocytes are significantly elevated over those in blood of mice with at least one wild-type allele

homeostasis/metabolism

abnormal iron homeostasis ( J:103440 )

• the erythrocyte zinc-to-iron protoporphyrin IX ratio of 8 week old homozygous deletant mice is approximately 2.7-fold that of wild-type mice

increased liver iron level ( J:103440 )

• the liver iron content of homozygous deletant mice at 8 weeks is approximately 3-fold higher than that of wild-type mice

liver/biliary system

increased liver iron level ( J:103440 )

• the liver iron content of homozygous deletant mice at 8 weeks is approximately 3-fold higher than that of wild-type mice