Phenotypes associated with this allele

• Allele Symbol: Fth1^tm1Cbea
• Allele Name: targeted mutation 1, Carole Beaumont
• Allele ID: MGI:2386942
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fth1^tm1Cbea/Fth1^tm1Cbea	involves: 129S2/SvPas * C57BL/6	MGI:3653207
ht2	Fth1^tm1Cbea/Fth1^+	involves: 129S2/SvPas * C57BL/6	MGI:3653209

Genotype
MGI:3653207

hm1

• Allelic Composition: Fth1^tm1Cbea/Fth1^tm1Cbea
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

mortality/aging

embryonic lethality, complete penetrance ( J:60287 )

• embryos present at E3.5 but absent at E9.5

Genotype
MGI:3653209

ht2

• Allelic Composition: Fth1^tm1Cbea/Fth1⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

homeostasis/metabolism

increased circulating ferritin level ( J:70685 )

• serum levels of "l-ferritin" increase progressively with age

abnormal iron homeostasis ( J:70685 )

• levels of "h-ferritin" are reduced in tissues while "l-ferritin" is increased although not to a significant degree

• iron storage, even in response to iron loading, is normal