Phenotypes associated with this allele

• Allele Symbol: Coil^tm1Agm
• Allele Name: targeted mutation 1, A Gregory Matera
• Allele ID: MGI:2181054
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Coil^tm1Agm/Coil^tm1Agm	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	MGI:2664310
hm2	Coil^tm1Agm/Coil^tm1Agm	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:2664311

Genotype
MGI:2664310

hm1

• Allelic Composition: Coil^tm1Agm/Coil^tm1Agm
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)

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

mortality/aging

decreased survivor rate ( J:70593 )

• homozygotes display reduced viability on a 129/Sv or C57BL/6J genetic background (no precise window of lethality is provided); however, survivors are fertile and grossly indistinguishable from wild-type littermates

• Background Sensitivity: a reduction in viability is observed when homozygotes are maintained on 129/Sv or crossed to C57BL/6J inbred backgrounds but not when outbred onto a CD-1 background

cellular

abnormal Cajal body morphology ( J:70593 )

• mutant tissues and mouse embryonic fibroblast (MEF) cell lines derived from E13.5-E14.5 mutant embryos retain coilin-negative extranucleolar foci of similar size and shape to Cajal bodies (CBs)

• however, these "residual" CBs fail to accumulate splicing small nuclear ribonucleoproteins (snRNPs) and the survival motor neuron (SMN) protein complex, whereas other CB components, such as fibrillarin and NOPP140, are redistributed in distinct subsets of remnant structures

• transient expression of wild-type mouse coilin in mutant MEFs results in the formation of two distinct types of coilin-positive foci: (i) structures that appear to be fully intact CBs, capable of recruiting both Sm snRNPs and the SMN protein complex, and (ii) a more diffuse accumulation of coilin protein, which appears to lack all other CB epitopes tested

Genotype
MGI:2664311

hm2

• Allelic Composition: Coil^tm1Agm/Coil^tm1Agm
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

mortality/aging

mortality/aging ( J:70593 )

N • Background Sensitivity: a reduction in viability is observed when homozygotes are maintained on 129/Sv or crossed to C57BL/6J inbred backgrounds but not when outbred onto a CD-1 background