Phenotypes associated with this allele

• Allele Symbol: Smc1a^tm1Mbk
• Allele Name: targeted mutation 1, Michael B Kastan
• Allele ID: MGI:3612278
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Rad50^tm2Jpt/Rad50^tm2Jpt Smc1a^tm1Mbk/Smc1a^tm1Mbk	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6	MGI:3615687
ot2	Smc1a^tm1Mbk/Y	involves: 129S1/Sv * C57BL/6	MGI:3615660

Genotype
MGI:3615687

cx1

• Allelic Composition: Rad50^tm2Jpt/Rad50^tm2Jpt; Smc1a^tm1Mbk/Smc1a^tm1Mbk
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6

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

mortality/aging

premature death ( J:103922 )

♀ • double homozygotes are indistinguishable from homozygous Rad50^tm2Jpt mice with respect to survival and die within 5 months after birth

hematopoietic system

abnormal hematopoietic system morphology/development ( J:103922 )

♀ • double homozygotes are indistinguishable from homozygous Rad50 mice with respect to hematopoietic cell numbers

abnormal pro-B cell morphology ( J:103922 )

♀ • pro-B cell numbers are similar to that in homozygous Rad50 mice

decreased double-negative T cell number ( J:103922 )

♀ • double-negative T cell numbers are similar to that in homozygous Rad50 mice

anemia ( J:103922 )

♀ • 26 of 27 develop anemia

decreased macrophage cell number ( J:103922 )

♀ • macrophage numbers are similar to that in homozygous Rad50 mice

immune system

abnormal pro-B cell morphology ( J:103922 )

♀ • pro-B cell numbers are similar to that in homozygous Rad50 mice

decreased double-negative T cell number ( J:103922 )

♀ • double-negative T cell numbers are similar to that in homozygous Rad50 mice

decreased macrophage cell number ( J:103922 )

♀ • macrophage numbers are similar to that in homozygous Rad50 mice

Genotype
MGI:3615660

ot2

• Allelic Composition: Smc1a^tm1Mbk/Y
• Genetic Background: involves: 129S1/Sv * C57BL/6

cellular

abnormal cell cycle checkpoint function ( J:104490 )

♂ • MEFs exhibit a defective S-phase checkpoint after ionizing radiation induced DNA damage

abnormal cell death ( J:104490 )

♂

increased cellular sensitivity to methylmethanesulfonate ( J:104490 )

♂ • MEFs exhibit decreased cell survival following exposure to the alkylating agent, methylmethanesulfonate

increased cellular sensitivity to ionizing radiation ( J:104490 )

♂ • MEFs exhibit decreased cell survival following exposure to ionizing radiation

chromosome breakage ( J:104490 )

♂ • MEFs exhibit a slower disappearance of chromosomal breaks after ionizing radiation