Phenotypes Associated with This Genotype

Genotype
MGI:3809311

• Allelic Composition: Tmprss6^tm1Otin/Tmprss6^tm1Otin
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

growth/size/body

postnatal growth retardation ( J:138734 )

• some growth retardation which is more pronounced in females

reproductive system

abnormal ovary development ( J:138734 )

♀ • marked retardation in ovary maturation

female infertility ( J:138734 )

♀

hematopoietic system

anemia ( J:138734 )

abnormal erythrocyte morphology ( J:138734 )

• severe hypochromia on blood smears

• hematopoietic defects reversed by iron-dextran treatment

anisopoikilocytosis ( J:138734 )

• slight

homeostasis/metabolism

abnormal iron level ( J:138734 )

• severe iron deficiency

decreased circulating iron level ( J:138734 )

• reduced transferrin saturation

endocrine/exocrine glands

abnormal ovary development ( J:138734 )

♀ • marked retardation in ovary maturation

integument

alopecia ( J:138734 )

• hair loss on the back starting at 2 weeks

• hair loss not seen on the head

• completely nude on dorsal and ventral regions of the thorax and abdomen by 4 weeks

• new hair growth starting about 10 days later with further cycles of progressive hair loss

• diffuse alopecia in dorsal regions continues throughout adulthood

• completely reversed by iron-dextran treatment

abnormal hair follicle morphology ( J:138734 )

• disorganized, dystrophic, and hypoplastic at 4 weeks of age

abnormal hair follicle infundibulum morphology ( J:138734 )

• infundibular ectasia and hyperkeratosis at 4 weeks which disappears in adults

thin hair follicle outer root sheath ( J:138734 )

• thinner outer sheath in isthmus and inferior segment levels

pallor ( J:138734 )

• in newborns