All Phenotypes Hfe<tm1Gfn> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hfe^tm1Gfn/Hfe^tm1Gfn	involves: 129P2/OlaHsd * C57BL/6	MGI:3839772
cx2	Hfe^tm1Gfn/? Hfem2^DBA/2/Hfem2^DBA/2	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	MGI:3692660
cx3	Hfe^tm1Gfn/? Hfem2^C57BL/6/Hfem2^DBA/2	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	MGI:3692661
cx4	Hfe^tm1Gfn/? Hfem1^DBA/2/Hfem1^DBA/2	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	MGI:3692658
cx5	Hfe^tm1Gfn/? Hfem4^C57BL/6/Hfem4^DBA/2	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	MGI:3692663
cx6	Hfe^tm1Gfn/? Hfem4^DBA/2/Hfem4^DBA/2	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	MGI:3692664
cx7	Hfe^tm1Gfn/? Hfem3^DBA/2/Hfem3^DBA/2	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	MGI:3692662
cx8	Hfe^tm1Gfn/? Hfem1^C57BL/6/Hfem1^DBA/2	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	MGI:3692659

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

growth/size/body

increased body weight ( J:262906 )

• slight increase in body weight at 12 months of age, but not at 6 months

homeostasis/metabolism

abnormal iron homeostasis ( J:68025 )

• duodenal mucosa absorbs iron at a 2.6-fold greater rate than controls when fed a normal diet and 1.6-fold greater when fed an iron overload diet

abnormal iron level ( J:262906 )

• significant deposition of iron in the bone trabeculae

increased spleen iron level ( J:68025 )

• spleen iron levels are about 2-fold higher than controls when mice are fed an iron-deficient diet

increased circulating iron level ( J:68025 )

• plasma iron is elevated with a concentration of 195 ug/100ml compared to 134 ug/100ml

• when iron overload is induced, plasma levels jump up to 276 ug/100ml compared to 171 ug/100ml in wild-type mice

• under iron overload conditions, transferrin saturation is significantly higher at 84% than 57% observed in wild-type mice

increased liver iron level ( J:68025 , J:262906 )

	• liver iron levels are 3- to 4- fold higher than controls regardless if diet is normal, iron deficient, or overloaded with iron (J:68025) • iron is predominately found in periportal hepatocytes (J:68025)
	• increase in hepatic iron concentration at 6 and 12 months of age (J:262906)

liver/biliary system

increased liver iron level ( J:68025 , J:262906 )

	• liver iron levels are 3- to 4- fold higher than controls regardless if diet is normal, iron deficient, or overloaded with iron (J:68025) • iron is predominately found in periportal hepatocytes (J:68025)
	• increase in hepatic iron concentration at 6 and 12 months of age (J:262906)

skeleton

increased osteoclast cell number ( J:262906 )

• the number of osteoclasts is increased at 6 and 12 months

abnormal trabecular bone morphology ( J:262906 )

• an increase in trabecular bone pattern factor and structure model index, parameters of trabecular organization

decreased trabecular bone volume ( J:262906 )

• trabecular bone volume is lower at 6 and 12 months of age

decreased bone trabecula number ( J:262906 )

decreased trabecular bone thickness ( J:262906 )

osteoporosis ( J:262906 )

immune system

increased osteoclast cell number ( J:262906 )

• the number of osteoclasts is increased at 6 and 12 months

increased spleen iron level ( J:68025 )

• spleen iron levels are about 2-fold higher than controls when mice are fed an iron-deficient diet

hematopoietic system

increased osteoclast cell number ( J:262906 )

• the number of osteoclasts is increased at 6 and 12 months

increased spleen iron level ( J:68025 )

• spleen iron levels are about 2-fold higher than controls when mice are fed an iron-deficient diet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 1		DOID:0111029	OMIM:235200	J:68025 , J:262906

Allelic Composition	Hfe^tm1Gfn/? Hfem2^DBA/2/Hfem2^DBA/2
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hfem2^DBA/2 mutation (0 available); any Hfem2 mutation (0 available)
Hfe^tm1Gfn mutation (1 available); any Hfe mutation (35 available)

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

homeostasis/metabolism

hemochromatosis ( J:90494 )

• increased liver iron content

Allelic Composition	Hfe^tm1Gfn/? Hfem2^C57BL/6/Hfem2^DBA/2
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hfem2^C57BL/6 mutation (0 available); any Hfem2 mutation (0 available)
Hfem2^DBA/2 mutation (0 available); any Hfem2 mutation (0 available)
Hfe^tm1Gfn mutation (1 available); any Hfe mutation (35 available)

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

homeostasis/metabolism

hemochromatosis ( J:90494 )

• increased liver iron content

Allelic Composition	Hfe^tm1Gfn/? Hfem1^DBA/2/Hfem1^DBA/2
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hfem1^DBA/2 mutation (0 available); any Hfem1 mutation (0 available)
Hfe^tm1Gfn mutation (1 available); any Hfe mutation (35 available)

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

homeostasis/metabolism

hemochromatosis ( J:90494 )

• decreased liver iron content

Allelic Composition	Hfe^tm1Gfn/? Hfem4^C57BL/6/Hfem4^DBA/2
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hfem4^C57BL/6 mutation (0 available); any Hfem4 mutation (0 available)
Hfem4^DBA/2 mutation (0 available); any Hfem4 mutation (0 available)
Hfe^tm1Gfn mutation (1 available); any Hfe mutation (35 available)

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

homeostasis/metabolism

hemochromatosis ( J:90494 )

• increased liver iron content

Allelic Composition	Hfe^tm1Gfn/? Hfem4^DBA/2/Hfem4^DBA/2
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hfem4^DBA/2 mutation (0 available); any Hfem4 mutation (0 available)
Hfe^tm1Gfn mutation (1 available); any Hfe mutation (35 available)

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

homeostasis/metabolism

hemochromatosis ( J:90494 )

• increased liver iron content

Allelic Composition	Hfe^tm1Gfn/? Hfem3^DBA/2/Hfem3^DBA/2
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hfem3^DBA/2 mutation (0 available); any Hfem3 mutation (0 available)
Hfe^tm1Gfn mutation (1 available); any Hfe mutation (35 available)

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

homeostasis/metabolism

hemochromatosis ( J:90494 )

• increased liver iron content

Allelic Composition	Hfe^tm1Gfn/? Hfem1^C57BL/6/Hfem1^DBA/2
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hfem1^C57BL/6 mutation (0 available); any Hfem1 mutation (0 available)
Hfem1^DBA/2 mutation (0 available); any Hfem1 mutation (0 available)
Hfe^tm1Gfn mutation (1 available); any Hfe mutation (35 available)

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

homeostasis/metabolism

hemochromatosis ( J:90494 )

• decreased liver iron content

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