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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Nsmce2tm2.1Ofc
targeted mutation 2.1, Oscar Fernandez-Capetillo
MGI:5906664
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Blmtm4Ches/Blmtm4Ches
Cd19tm1(cre)Cgn/Cd19+
Nsmce2tm2.1Ofc/Nsmce2tm2.1Ofc 		involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * SJL MGI:5906762
cn2
 		Nsmce2tm2.1Ofc/Nsmce2tm2.1Ofc
Ndor1Tg(UBC-cre/ERT2)1Ejb/0 		involves: 129S/SvEv * C57BL/6 * SJL MGI:5906758


Genotype
MGI:5906762
cn1
Allelic
Composition		 Blmtm4Ches/Blmtm4Ches
Cd19tm1(cre)Cgn/Cd19+
Nsmce2tm2.1Ofc/Nsmce2tm2.1Ofc
Genetic
Background		 involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Blmtm4Ches mutation (1 available); any Blm mutation (88 available)
Cd19tm1(cre)Cgn mutation (11 available); any Cd19 mutation (60 available)
Nsmce2tm2.1Ofc mutation (0 available); any Nsmce2 mutation (48 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal B cell morphology ( J:227197 )
• striking increase in B cell size coincident with the presence of large and irregular multilobulated nuclei indicating severe segregation defects
decreased B cell number ( J:227197 )
• acute loss of B cells that is not seen in either single conditional mutant
abnormal B cell physiology ( J:227197 )
• increase in spontaneous sister chromatid exchange levels in B cells

cellular
elevated level of mitotic sister chromatid exchange ( J:227197 )
• increase in spontaneous sister chromatid exchange levels in B cells

hematopoietic system
abnormal B cell morphology ( J:227197 )
• striking increase in B cell size coincident with the presence of large and irregular multilobulated nuclei indicating severe segregation defects
decreased B cell number ( J:227197 )
• acute loss of B cells that is not seen in either single conditional mutant
abnormal B cell physiology ( J:227197 )
• increase in spontaneous sister chromatid exchange levels in B cells




Genotype
MGI:5906758
cn2
Allelic
Composition		 Nsmce2tm2.1Ofc/Nsmce2tm2.1Ofc
Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic
Background		 involves: 129S/SvEv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndor1Tg(UBC-cre/ERT2)1Ejb mutation (6 available); any Ndor1 mutation (32 available)
Nsmce2tm2.1Ofc mutation (0 available); any Nsmce2 mutation (48 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:227197 )
• mice die within 1 year following tamoxifen exposure at weaning
premature aging ( J:227197 )
• tamoxifen exposure beginning at weaning results in a progressive and generalized progeroid syndrome

cellular
abnormal cell nucleus morphology ( J:227197 )
• increased incidence of micronucleated cells in MEFs following tamoxifen treatment
• dramatic increase in micronuclei in proliferating tissues following tamoxifen treatment at weaning
abnormal mitosis ( J:227197 )
• tamoxifen exposure at E13.5 results in accumulation of mitotic cells in the thymus
elevated level of mitotic sister chromatid exchange ( J:227197 )
• sister chromatid exchanges and inter-telomeric recombination rates are increased in MEFs following tamoxifen treatmen
mitotic nondisjunction ( J:227197 )
• accumulation of intercellular DNA bridges in MEFs following tamoxifen treatment

adipose tissue
decreased total body fat amount ( J:227197 )
• following tamoxifen exposure at weaning

pigmentation
abnormal coat/hair pigmentation ( J:227197 )
• following tamoxifen exposure at weaning
abnormal skin pigmentation ( J:227197 )
• following tamoxifen exposure at weaning

digestive/alimentary system
abnormal intestinal epithelium morphology ( J:227197 )
• dramatic increase in micronuclei following tamoxifen treatment at weaning

embryo
decreased embryo size ( J:227197 )
• tamoxifen exposure at E13.5 results in intrauterine dwarfism with overall loss of cellularity particularly in some specific organs including the thymus

endocrine/exocrine glands
abnormal thymus physiology ( J:227197 )
• tamoxifen exposure at E13.5 results in accumulation of mitotic cells in the thymus

growth/size/body
decreased embryo size ( J:227197 )
• tamoxifen exposure at E13.5 results in intrauterine dwarfism with overall loss of cellularity particularly in some specific organs including the thymus

hematopoietic system
abnormal thymus physiology ( J:227197 )
• tamoxifen exposure at E13.5 results in accumulation of mitotic cells in the thymus
anemia ( J:227197 )
• progressive anemia following tamoxifen exposure at weaning

immune system
abnormal thymus physiology ( J:227197 )
• tamoxifen exposure at E13.5 results in accumulation of mitotic cells in the thymus

integument
abnormal coat/hair pigmentation ( J:227197 )
• following tamoxifen exposure at weaning
abnormal skin pigmentation ( J:227197 )
• following tamoxifen exposure at weaning

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Bloom syndrome DOID:2717 OMIM:210900
 J:227197




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory