Phenotypes Associated with This Genotype

Genotype
MGI:4820598

• Allelic Composition: Slc11a2^mk/Slc11a2^mk
• Genetic Background: SEC.Cg-Slc11a2^mk

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

mortality/aging

postnatal lethality ( J:5167 )

• many homozygotes die between 1 and 3 weeks of age

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

hematopoietic system

increased spleen weight ( J:5167 )

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

• 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 )

• at 8 weeks of age females have a mean hematocrit of 38.9% compared with 48.5% in heterozygous controls and males have a mean hematocrit of 40.3% compared with 50% in heterozygous controls

decreased cellular hemoglobin content ( J:5167 )

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

• decreased in females from 17.1g in heterozygous controls to 20.6g per 100 cc blood and in males from 17.8g in heterozygous controls to 11.2g per 100cc blood (J:5167)

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

• Background Sensitivity: hemoglobin concentration in circulating blood ranges from 6.1 to 7.8 g/ml compared with 16.1 to 17.0 in wildtype controls (J:162917)

decreased mean corpuscular hemoglobin ( J:5167 )

• decreased from 17.4g to 8g per 100cc packed red cells in females and from 16.3g to 8g per 100cc packed red cells in males

anisocytosis ( J:162917 )

microcytosis ( J:5167 )

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

reticulocytosis ( J:5167 , J:162917 )

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

increased erythrocyte clearance ( J:162917 )

• Background Sensitivity: mean red blood cell lifespan of 15 days compared with 45 days in controls, with splenectomy increasing red blood cell lifespan to 23 days

hemolysis ( J:162917 )

decreased erythrocyte osmotic fragility ( J:5167 )

• the red blood cell population contains a smaller population of osmotically sensitive cells and a larger population of osmotically resistant cells

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 )

immune system

increased spleen weight ( J:5167 )

reproductive system

reduced female fertility ( J:5167 )

♀

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