Phenotypes associated with this allele

• Allele Symbol: Birc5^tm1Emc
• Allele Name: targeted mutation 1, Edward M Conway
• Allele ID: MGI:2384336
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Birc5^tm1Emc/Birc5^tm1Emc	involves: 129S1/Sv * 129X1/SvJ * Swiss	MGI:2677377
ht2	Birc5^tm1Emc/Birc5^+	involves: 129S1/Sv * 129X1/SvJ * Swiss	MGI:3838311
cn3	Birc5^tm1Wnt/Birc5^tm1Emc Tg(Lck-cre)1Cwi/0	involves: 129S/SvEv * C57BL/6 * DBA/2	MGI:3028491
cn4	Birc5^tm1Wnt/Birc5^tm1Emc Tg(Cd4-cre)1Cwi/0	involves: 129S/SvEv * C57BL/6 * DBA/2	MGI:3028493

Genotype
MGI:2677377

hm1

• Allelic Composition: Birc5^tm1Emc/Birc5^tm1Emc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss

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

mortality/aging

embryonic lethality before implantation, complete penetrance ( J:78103 )

• although some embryos survive until E3.5, most are not viable at E2.5

Genotype
MGI:3838311

ht2

• Allelic Composition: Birc5^tm1Emc/Birc5⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss

cellular

abnormal apoptosis ( J:78103 )

• liver lysates show a low-level activation of the apoptotic cascade, with increased cellular levels of Bax, partial cleavage of procaspase-8, Bid, procaspase-9, and procaspase-3, with release into the cytosol of small amounts of cytochrome c

abnormal oxidative phosphorylation ( J:78103 )

• isolated mitochondria from livers have more defects in oxidative phosphorylation after C2-ceramide exposure compared to wild-type mitochondria

homeostasis/metabolism

increased susceptibility to injury ( J:78103 )

• mutants are more sensitive to fas-mediated hepatic damage as indicated by enlarged and hemorrhagic livers, hepatocelluar damage and increased apoptosis associated with higher capsase-3 activity compared to wild-type upon intraperitoneal injection of low-dose anti-Fas antibody

Genotype
MGI:3028491

cn3

• Allelic Composition: Birc5^tm1Wnt/Birc5^tm1Emc; Tg(Lck-cre)1Cwi/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * DBA/2

hematopoietic system

thymus hypoplasia ( J:87435 )

• thymic cellularity reduced to 1/8 normal

increased double-negative T cell number ( J:87435 )

• most thymocytes are double negative

• a lower percentage of double negative stage 4 cells (DN4) and increase in DN3 cells

decreased T cell number ( J:87435 )

• only moderate reductions in mature T cells in spleen and lymph nodes

decreased double-positive T cell number ( J:87435 )

• absolute numbers of double positive cells reduced

immune system

thymus hypoplasia ( J:87435 )

• thymic cellularity reduced to 1/8 normal

increased double-negative T cell number ( J:87435 )

• most thymocytes are double negative

• a lower percentage of double negative stage 4 cells (DN4) and increase in DN3 cells

decreased T cell number ( J:87435 )

• only moderate reductions in mature T cells in spleen and lymph nodes

decreased double-positive T cell number ( J:87435 )

• absolute numbers of double positive cells reduced

small lymph nodes ( J:87435 )

• lymph nodes reduced 50%

endocrine/exocrine glands

thymus hypoplasia ( J:87435 )

• thymic cellularity reduced to 1/8 normal

Genotype
MGI:3028493

cn4

• Allelic Composition: Birc5^tm1Wnt/Birc5^tm1Emc; Tg(Cd4-cre)1Cwi/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * DBA/2

hematopoietic system

abnormal T cell differentiation ( J:87435 )

• peripheral T cells are less mature

• reduction of mature T cells in spleen and lymph nodes

immune system

abnormal T cell differentiation ( J:87435 )

• peripheral T cells are less mature

• reduction of mature T cells in spleen and lymph nodes