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Phenotypes Associated with This Genotype
Genotype
MGI:3664441
Allelic
Composition
Blmtm1Ches/Blmtm4Ches
Tg(Hsp70-1-cre)6Arge/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Blmtm1Ches mutation (0 available); any Blm mutation (88 available)
Blmtm4Ches mutation (1 available); any Blm mutation (88 available)
Tg(Hsp70-1-cre)6Arge mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• mammary tumors are observed in 7/12 females between 10 and 24 months of age; the tumors produced are adenomyoepitheliomas compared to 1/20 non-conditional knockout mice
• in cell lines developed from individual mammary tumors from two of the conditional knockout mouse lines, substantial genomic instability is displayed with uniformly high levels (1.3 to 1.8 SCEs/chromosome) of sister chromatid exchange (SCE) compared to control cells and a control tumor line
• numbers of micronuclei showed greater than 3-fold variation among tumor cell lines ranging from 10% to 34.5% compared to 3% in the control tumor line
• mutant cell lines show a higher degree of chromosomal aberrations (CAs) in metaphase chromosome spreads compared to the control tumor line; ~200 CAs/25 metaphases in the most unstable lines to ~50 CAs/25 spreads in the most stable line are observed with control cell showing 25 CAs/25 metaphases
• transformation capability shows correlation with the degree of instability; cells from the most chromosomally unstable lines produce more colonies in an anchorage-independent growth assay than more stable lines; when cells from unstable lines are injected into nude mice, tumor frequency and growth kinetics are similar to the in vitro growth assay

integument
• mammary tumors are observed in 7/12 females between 10 and 24 months of age; the tumors produced are adenomyoepitheliomas compared to 1/20 non-conditional knockout mice
• in cell lines developed from individual mammary tumors from two of the conditional knockout mouse lines, substantial genomic instability is displayed with uniformly high levels (1.3 to 1.8 SCEs/chromosome) of sister chromatid exchange (SCE) compared to control cells and a control tumor line
• numbers of micronuclei showed greater than 3-fold variation among tumor cell lines ranging from 10% to 34.5% compared to 3% in the control tumor line
• mutant cell lines show a higher degree of chromosomal aberrations (CAs) in metaphase chromosome spreads compared to the control tumor line; ~200 CAs/25 metaphases in the most unstable lines to ~50 CAs/25 spreads in the most stable line are observed with control cell showing 25 CAs/25 metaphases
• transformation capability shows correlation with the degree of instability; cells from the most chromosomally unstable lines produce more colonies in an anchorage-independent growth assay than more stable lines; when cells from unstable lines are injected into nude mice, tumor frequency and growth kinetics are similar to the in vitro growth assay

endocrine/exocrine glands
• mammary tumors are observed in 7/12 females between 10 and 24 months of age; the tumors produced are adenomyoepitheliomas compared to 1/20 non-conditional knockout mice
• in cell lines developed from individual mammary tumors from two of the conditional knockout mouse lines, substantial genomic instability is displayed with uniformly high levels (1.3 to 1.8 SCEs/chromosome) of sister chromatid exchange (SCE) compared to control cells and a control tumor line
• numbers of micronuclei showed greater than 3-fold variation among tumor cell lines ranging from 10% to 34.5% compared to 3% in the control tumor line
• mutant cell lines show a higher degree of chromosomal aberrations (CAs) in metaphase chromosome spreads compared to the control tumor line; ~200 CAs/25 metaphases in the most unstable lines to ~50 CAs/25 spreads in the most stable line are observed with control cell showing 25 CAs/25 metaphases
• transformation capability shows correlation with the degree of instability; cells from the most chromosomally unstable lines produce more colonies in an anchorage-independent growth assay than more stable lines; when cells from unstable lines are injected into nude mice, tumor frequency and growth kinetics are similar to the in vitro growth assay

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Bloom syndrome DOID:2717 OMIM:210900
J:112115


Contributing Projects:
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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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory