Phenotypes associated with this allele

• Allele Symbol: Trf^hpx
• Allele Name: hypotransferrinemia with hemochromatosis
• Allele ID: MGI:1856905
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Trf^hpx/Trf^hpx	BALB/cJ-Trf^hpx	MGI:3037942
ht2	Trf^hpx/Trf^+	BALB/cJ-Trf^hpx	MGI:3037943

Genotype
MGI:3037942

hm1

• Allelic Composition: Trf^hpx/Trf^hpx
• Genetic Background: BALB/cJ-Trf^hpx

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

mortality/aging

postnatal lethality, complete penetrance ( J:8936 )

• death by 14 days of age

• injections of purified transferrin, mouse or human serum exteneded life

growth/size/body

postnatal growth retardation ( J:8936 )

hematopoietic system

hypochromic anemia ( J:8936 , J:64456 )

decreased erythrocyte cell number ( J:8936 )

decreased hematocrit ( J:8936 )

decreased hemoglobin content ( J:8936 )

decreased mean corpuscular hemoglobin concentration ( J:8936 , J:64456 )

decreased mean corpuscular volume ( J:8936 )

anisocytosis ( J:8936 )

poikilocytosis ( J:8936 )

spherocytosis ( J:8936 )

abnormal reticulocyte morphology ( J:8936 )

• microreticulocytes

homeostasis/metabolism

abnormal iron homeostasis ( J:8936 , J:64456 )

• increased clearance rates (J:8936)

• increased clearance rate (J:64456)

increased circulating iron level ( J:8936 )

• progressive hyperferremia

hemochromatosis ( J:8936 , J:64456 )

• with iron loading visible in the liver, heart, kidney and pancreas (J:8936)

• with iron loading, visible in the embryonic liver and at 6 months of age in the heart, kidney and pancreas (J:64456)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atransferrinemia		DOID:0050649	OMIM:209300	J:8936 , J:64456

Genotype
MGI:3037943

ht2

• Allelic Composition: Trf^hpx/Trf⁺
• Genetic Background: BALB/cJ-Trf^hpx

hematopoietic system

hematopoietic system phenotype ( J:64456 )

N • normal blood values

homeostasis/metabolism

abnormal iron homeostasis ( J:8936 , J:64456 )

increased circulating iron level ( J:8936 )

• progressive hyperferremia, but milder and later in life than homozygotes

hemochromatosis ( J:8936 )

• mild

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atransferrinemia		DOID:0050649	OMIM:209300	J:8936 , J:64456