Phenotypes associated with this allele

• Allele Symbol: Smarca5^tm1Ais
• Allele Name: targeted mutation 1, Art I Skoultchi
• Allele ID: MGI:2683154
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smarca5^tm1Ais/Smarca5^tm1Ais	involves: 129/Sv * C57BL/6 * SJL	MGI:2683187
ht2	Smarca5^tm1Ais/Smarca5^+	involves: 129/Sv * C57BL/6 * SJL	MGI:4415715

Genotype
MGI:2683187

hm1

• Allelic Composition: Smarca5^tm1Ais/Smarca5^tm1Ais
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:86695 )

• homozygous mutant embryos undergo implantation but die and are resorbed by E7.5

embryo

abnormal inner cell mass apoptosis ( J:86695 )

• ex vivo, ICM-derived cells from mutant blastocysts undergo massive apoptosis between 3 and 6 days in culture

increased trophectoderm apoptosis ( J:86695 )

• ex vivo, trophoectoderm-derived cells from mutant blastocysts undergo massive apoptosis between 3 and 6 days in culture

absent inner cell mass proliferation ( J:86695 )

• ex vivo, ICM- and trophectoderm-derived cells from mutant blastocysts fail to proliferate and develop into compact ES cell colonies after 6 days in culture

• no ES cell lines are obtained from homozygous mutant blastocysts

abnormal embryo development ( J:86695 )

• homozygous mutant embryos display defective development between E5.5 and E7.5

embryonic growth arrest ( J:86695 )

• ex vivo, both ICM- and trophectoderm-derived cells from mutant blastocysts undergo growth arrest between 3 and 6 days in culture

inner cell mass degeneration ( J:86695 )

• ex vivo, mutant blastocysts freshly isolated at E3.5 consist of a viable inner cell mass (ICM) but begin to degenerate after 2 days in culture

trophectoderm cell degeneration ( J:86695 )

• ex vivo, mutant blastocysts freshly isolated at E3.5 consist of a viable trophectoderm but begin to degenerate after 2 days in culture

cellular

abnormal inner cell mass apoptosis ( J:86695 )

• ex vivo, ICM-derived cells from mutant blastocysts undergo massive apoptosis between 3 and 6 days in culture

increased trophectoderm apoptosis ( J:86695 )

• ex vivo, trophoectoderm-derived cells from mutant blastocysts undergo massive apoptosis between 3 and 6 days in culture

absent inner cell mass proliferation ( J:86695 )

• ex vivo, ICM- and trophectoderm-derived cells from mutant blastocysts fail to proliferate and develop into compact ES cell colonies after 6 days in culture

• no ES cell lines are obtained from homozygous mutant blastocysts

Genotype
MGI:4415715

ht2

• Allelic Composition: Smarca5^tm1Ais/Smarca5⁺
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL

neoplasm

neoplasm ( J:86695 )

N • heterozygotes of both sexes show no evidence of tumor formation up to 12 months of age