Phenotypes associated with this allele

• Allele Symbol: Fbxl5^tm1Kei
• Allele Name: targeted mutation 1, Keiichi I Nakayama
• Allele ID: MGI:5295288
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fbxl5^tm1Kei/Fbxl5^tm1Kei	B6.129-Fbxl5^tm1Kei	MGI:5295290
cx2	Fbxl5^tm1Kei/Fbxl5^tm1Kei Ireb2^tm1Roua/Ireb2^tm1Roua	B6.129-Fbxl5^tm1Kei Ireb2^tm1Roua	MGI:5295293

Genotype
MGI:5295290

hm1

• Allelic Composition: Fbxl5^tm1Kei/Fbxl5^tm1Kei
• Genetic Background: B6.129-Fbxl5^tm1Kei

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

mortality/aging

embryonic lethality between somite formation and embryo turning, complete penetrance ( J:176655 )

• appear grossly normal at E7.5 but are inviable by E8.5

homeostasis/metabolism

abnormal iron level ( J:176655 )

• iron deposits in embryonic and extraembryonic visceral endoderm at E8.5 and E7.5, respectively

• iron overload

embryo

increased embryonic tissue cell apoptosis ( J:176655 )

• in the ectoplacental cone and embryonic tissues at E8.5

abnormal embryo development ( J:176655 )

• under high iron conditions development of both the trophectoderm and inner cell mass is impaired

embryonic growth retardation ( J:176655 )

• at E8.5 in most embryos

abnormal ectoplacental cone morphology ( J:176655 )

• hemorrhage in the region of the ectoplacental cone

• apoptotic cells in the ectoplacental cone

abnormal extraembryonic tissue physiology ( J:176655 )

• marked increase in markers of oxidative stress in the extraembryonic visceral endoderm as early as E7.5

cardiovascular system

hemorrhage ( J:176655 )

• massive hemorrhage at E8.5 in most embryos

internal hemorrhage ( J:176655 )

• hemorrhage in the region of the ectoplacental cone

cellular

increased embryonic tissue cell apoptosis ( J:176655 )

• in the ectoplacental cone and embryonic tissues at E8.5

oxidative stress ( J:176655 )

• marked increase in markers of oxidative stress in the extraembryonic visceral endoderm as early as E7.5

growth/size/body

embryonic growth retardation ( J:176655 )

• at E8.5 in most embryos

Genotype
MGI:5295293

cx2

• Allelic Composition: Fbxl5^tm1Kei/Fbxl5^tm1Kei; Ireb2^tm1Roua/Ireb2^tm1Roua
• Genetic Background: B6.129-Fbxl5^tm1Kei Ireb2^tm1Roua

mortality/aging

mortality/aging ( J:176655 )

N • unlike mice homozygous for the Fbxl5 mutation alone, double homozygous mice are viable

homeostasis/metabolism

increased circulating iron level ( J:176655 )

decreased circulating unsaturated transferrin level ( J:176655 )

• elevated transferrin saturation

decreased liver iron level ( J:176655 )

• compared to mice homozygous for the Ireb2 mutation alone

hematopoietic system

decreased hematocrit ( J:176655 )

decreased hemoglobin content ( J:176655 )

decreased mean corpuscular hemoglobin ( J:176655 )

decreased mean corpuscular hemoglobin concentration ( J:176655 )

decreased mean corpuscular volume ( J:176655 )

microcytosis ( J:176655 )

liver/biliary system

decreased liver iron level ( J:176655 )

• compared to mice homozygous for the Ireb2 mutation alone