Phenotypes Associated with This Genotype

Genotype
MGI:2449181

• Allelic Composition: Ank1^nb/Ank1^nb
• Genetic Background: either: (involves: non-inbred stock) or (involves: C57BL/6) or (involves: WB/Re)

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

pigmentation

abnormal skin pigmentation ( J:30699 )

• bright orange skin color at birth, fading with age

behavior/neurological

tremors ( J:11441 )

• after 6 months of age

impaired balance ( J:11441 )

• awkward, unbalanced gait develops after 6 months of age

cardiovascular system

cardiac hypertrophy ( J:30699 )

growth/size/body

cardiac hypertrophy ( J:30699 )

decreased body size ( J:30699 )

enlarged liver ( J:30699 )

enlarged spleen ( J:30699 )

• becoming 8-10% of body weight

hematopoietic system

abnormal thymus development ( J:30699 )

• the thymus is still present at 6 months of age

enlarged spleen ( J:30699 )

• becoming 8-10% of body weight

hypochromic anemia ( J:30699 )

• normocytic hypochromic anemia

decreased erythrocyte cell number ( J:30699 )

decreased hematocrit ( J:30699 )

decreased hemoglobin content ( J:30699 )

increased leukocyte cell number ( J:30699 )

immune system

abnormal thymus development ( J:30699 )

• the thymus is still present at 6 months of age

enlarged spleen ( J:30699 )

• becoming 8-10% of body weight

increased leukocyte cell number ( J:30699 )

enlarged lymph nodes ( J:30699 )

liver/biliary system

enlarged liver ( J:30699 )

gallstones ( J:6371 )

• appear in 57% of homozygotes after 6 months of age

• twice as frequent in females as in males

jaundice ( J:30699 )

• jaundice at birth but no longer obvious as adults although obvious discoloration of urine, serum, and intestines persists

reproductive system

infertility ( J:30699 )

skeleton

abnormal bone marrow morphology ( J:30699 )

• bone marrow hyperplasia

nervous system

Purkinje cell degeneration ( J:11441 )

• 50% cell loss after 6 months of age

homeostasis/metabolism

abnormal iron homeostasis ( J:30699 )

• although iron is quickly removed from the serum into erythrocytes, it does so to a lesser extent than normal and only 1/3 of the amount of iron normally seen in the femur is found there in 3 hours post iron incorporation

integument

abnormal skin pigmentation ( J:30699 )

• bright orange skin color at birth, fading with age

endocrine/exocrine glands

abnormal thymus development ( J:30699 )

• the thymus is still present at 6 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spherocytosis type 1		DOID:0110916	OMIM:182900	J:11441