Phenotypes associated with this allele

• Allele Symbol: Tm7sf2^tm1Fdp
• Allele Name: targeted mutation 1, Forbes D Porter
• Allele ID: MGI:3829354
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tm7sf2^tm1Fdp/Tm7sf2^tm1Fdp	involves: 129S4/SvJae * C57BL/6	MGI:3829377
cx2	Lbr^ic-J/Lbr^ic-J Tm7sf2^tm1Fdp/Tm7sf2^tm1Fdp	involves: 129S4/SvJae * C57BL/6	MGI:3829378
cx3	Lbr^ic-J/Lbr^ic-J Tm7sf2^tm1Fdp/Tm7sf2^+	involves: 129S4/SvJae * C57BL/6	MGI:3829379
cx4	Lbr^ic-J/Lbr^+ Tm7sf2^tm1Fdp/Tm7sf2^tm1Fdp	involves: 129S4/SvJae * C57BL/6	MGI:3829381

Genotype
MGI:3829377

hm1

• Allelic Composition: Tm7sf2^tm1Fdp/Tm7sf2^tm1Fdp
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

homeostasis/metabolism

abnormal homeostasis ( J:143838 )

• reduced sterol levels in the brain cortex

skeleton

abnormal long bone epiphyseal plate morphology ( J:143838 )

• somewhat disorganized

Genotype
MGI:3829378

cx2

• Allelic Composition: Lbr^ic-J/Lbr^ic-J; Tm7sf2^tm1Fdp/Tm7sf2^tm1Fdp
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

embryonic lethality, complete penetrance ( J:143838 )

• die by E11.5

Genotype
MGI:3829379

cx3

• Allelic Composition: Lbr^ic-J/Lbr^ic-J; Tm7sf2^tm1Fdp/Tm7sf2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

prenatal lethality, complete penetrance ( J:143838 )

• die at varying times prenatally

craniofacial

cleft palate ( J:143838 )

• in four embryos recovered at birth

skeleton

fused phalanges ( J:143838 )

• in four embryos recovered at birth distal phalanges of the second and third digits are fused

hematopoietic system

extramedullary hematopoiesis ( J:143838 )

• decreased hepatic extramedullary hematopoiesis in four embryos recovered at birth

digestive/alimentary system

cleft palate ( J:143838 )

• in four embryos recovered at birth

limbs/digits/tail

fused phalanges ( J:143838 )

• in four embryos recovered at birth distal phalanges of the second and third digits are fused

growth/size/body

cleft palate ( J:143838 )

• in four embryos recovered at birth

Genotype
MGI:3829381

cx4

• Allelic Composition: Lbr^ic-J/Lbr⁺; Tm7sf2^tm1Fdp/Tm7sf2^tm1Fdp
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

postnatal lethality, complete penetrance ( J:143838 )

• die by 14 days of age

growth/size/body

postnatal growth retardation ( J:143838 )

• normal at birth

• impaired growth at 10 days

behavior/neurological

tremors ( J:143838 )

• by 10 days of age

ataxia ( J:143838 )

• by 10 days of age

nervous system

demyelination ( J:143838 )

• vacuolation and demyelination seen in the spinal cord

skeleton

abnormal skeleton development ( J:143838 )

• bone development is markedly abnormal

abnormal long bone epiphyseal plate proliferative zone ( J:143838 )

• noticeably shorter than normal, like those of a young adult

decreased width of hypertrophic chondrocyte zone ( J:143838 )

• noticeably shorter than normal, like those of a young adult

hematopoietic system

abnormal spleen morphology ( J:143838 )

• chromatin clumping in spleen cells seen by electron microscopy

homeostasis/metabolism

abnormal homeostasis ( J:143838 )

• marked reduction of sterol levels in the brain cortex

immune system

abnormal spleen morphology ( J:143838 )

• chromatin clumping in spleen cells seen by electron microscopy