Phenotypes Associated with This Genotype

Genotype
MGI:3578662

• Allelic Composition: Slc11a2^mk/Slc11a2^mk
• Genetic Background: MK/ReJ

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

cellular

maternal effect ( J:5167 )

• homozygous embryos of homozygous mothers have a higher proportion of erythrocytes with pale stain for hemoglobin than do those of heterozygous mothers

mortality/aging

postnatal lethality, incomplete penetrance ( J:98088 , J:5167 )

• Background Sensitivity: only 10% survive to weaning on the MK/ReJ background (J:98088)

• many homozygotes die between 1 and 3 weeks of age (J:5167)

hematopoietic system

increased spleen weight ( J:5167 )

• mean splenic weight in adults is 206mg versus 88mg in heterozygotes

hypochromic microcytic anemia ( J:162917 , J:5167 )

• homozygotes can be identified at birth by their pale color due to the small erythrocytes with diminished hemoglobin content, although the red cell counts are not significantly lower than normal (J:5167)

high mean erythrocyte cell number ( J:5167 )

• at 6 and 8 weeks of age all homozygotes have considerably increased erythrocyte numbers with low mean cell volumes

decreased hematocrit ( J:5167 )

• homozygotes from 10-30 weeks of age have a mean hematocrit of 38.9% while 10-20 week old heterozygous controls have a mean hematocrit of 49.7%

decreased cellular hemoglobin content ( J:5167 )

decreased hemoglobin content ( J:162917 , J:5167 )

• Background Sensitivity: hemoglobin concentration in circulating blood ranges from 8.2 to 10.6 g/ml compared with 16.1 to 17.0 in wildtype controls (J:162917)

• severely decreased in adults and as early as embryonic day 15 hemoglobin stain is pale in an abnormally high proportion of erythrocytes (J:5167)

decreased mean corpuscular hemoglobin ( J:5167 )

anisocytosis ( J:162917 )

microcytosis ( J:5167 )

• found as early as embryonic day 15 and persisting into adulthood

reticulocytosis ( J:162917 , J:5167 )

• reticulocyte concentration of 15-23% compared with 3-4% in wild-type controls (J:162917)

• homozygotes from 10-30 weeks of age have 5.3-28% reticulocytes compared with 10-20 week old heterozygotes with 1.1-5.2% reticulocytes (J:5167)

increased erythrocyte clearance ( J:162917 )

• mean red blood cell lifespan of 24 days compared with 45 days in controls

hemolysis ( J:162917 )

homeostasis/metabolism

abnormal iron homeostasis ( J:100202 )

• decrease in total iron uptake and a decrease in the incorportation of iron into heme by reticulocytes

• intraerythroid defects in iron metabolism with the erythrocyte zinc protoporphrin IX to heme (Znpp/H) ratio increased by 3.2 fold

immune system

increased spleen weight ( J:5167 )

• mean splenic weight in adults is 206mg versus 88mg in heterozygotes

reproductive system

reduced female fertility ( J:5167 )

♀

growth/size/body

decreased body weight ( J:5167 )

• although normal in weight at birth, by 1 week of age homozygotes have a lower body weight than heterozygous controls and this persists into adulhood

increased spleen weight ( J:5167 )

• mean splenic weight in adults is 206mg versus 88mg in heterozygotes

liver/biliary system

liver/biliary system phenotype ( J:5167 )

N • no evidence of jaundice

integument

skin lesions ( J:5167 )

• homozygotes can develop skin lesions in the postnatal period