Phenotypes associated with this allele

• Allele Symbol: Blm^tm1Ches
• Allele Name: targeted mutation 1, Nicholas Chester
• Allele ID: MGI:1857708
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Blm^tm1Ches/Blm^tm1Ches	involves: 129S6/SvEvTac * NIH Black Swiss	MGI:2683844
ht2	Blm^tm1Ches/Blm^tm3Brd	involves: 129S/SvEv * C57BL/6 * NIH Black Swiss	MGI:2683845
cn3	Blm^tm1Ches/Blm^tm4Ches Tg(KLK3-cre)1Ches/0	involves: 129S6/SvEvTac	MGI:3664442
cn4	Blm^tm1Ches/Blm^tm4Ches Tg(Hsp70-1-cre)6Arge/0	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3664441
cn5	Blm^tm1Ches/Blm^tm4Ches Tg(LGB-cre)74Acl/0	involves: 129S6/SvEvTac * C57BL/6 * CBA * SJL	MGI:3664440

Genotype
MGI:2683844

hm1

• Allelic Composition: Blm^tm1Ches/Blm^tm1Ches
• Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:50843 )

• no homozygotes born from crosses of heterozygous parents

• embryonic death occurred between E13.5 and E14.5

cardiovascular system

abnormal blood volume ( J:50843 )

• lack of blood circulating through fetus and yolk sac by E13.5

cellular

abnormal cell morphology ( J:50843 )

• presence of micronuclei in embryonic fibroblasts

abnormal apoptosis ( J:50843 )

• increased apoptosis in epiblast from E6.5 to E8.0

embryo

embryonic growth retardation ( J:50843 )

• developmental delay seen by E9.5

decreased embryo size ( J:50843 )

• by E10.5

• body proportions normal however

growth/size/body

embryonic growth retardation ( J:50843 )

• developmental delay seen by E9.5

decreased embryo size ( J:50843 )

• by E10.5

• body proportions normal however

hematopoietic system

anemia ( J:50843 )

abnormal proerythroblast morphology ( J:50843 )

abnormal erythrocyte morphology ( J:50843 )

• increased presence of nuclear fragments

• reduced numbers of red blood cells

• by E9.5

• blood volume also reduced by E12.5

abnormal erythropoiesis ( J:50843 )

macrocytosis ( J:50843 )

• red blood cells were enlarged

abnormal reticulocyte morphology ( J:50843 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bloom syndrome		DOID:2717	OMIM:210900	J:50843

Genotype
MGI:2683845

ht2

• Allelic Composition: Blm^tm1Ches/Blm^tm3Brd
• Genetic Background: involves: 129S/SvEv * C57BL/6 * NIH Black Swiss

neoplasm

increased tumor incidence ( J:86827 )

• considerable increase in tumor incidence

increased lymphoma incidence ( J:86827 )

• about half of spontaneous tumors are lymphomas

growth/size/body

postnatal growth retardation ( J:86827 )

• normal size at birth

• slight growth deficit by 16 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bloom syndrome		DOID:2717	OMIM:210900	J:86827

Genotype
MGI:3664442

cn3

• Allelic Composition: Blm^tm1Ches/Blm^tm4Ches; Tg(KLK3-cre)1Ches/0
• Genetic Background: involves: 129S6/SvEvTac

neoplasm

increased mammary gland tumor incidence ( J:112115 )

• mammary tumors are observed in 2/23 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 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

increased mammary gland tumor incidence ( J:112115 )

• mammary tumors are observed in 2/23 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 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

increased mammary gland tumor incidence ( J:112115 )

• mammary tumors are observed in 2/23 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 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

Genotype
MGI:3664441

cn4

• Allelic Composition: Blm^tm1Ches/Blm^tm4Ches; Tg(Hsp70-1-cre)6Arge/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

neoplasm

increased mammary gland tumor incidence ( J:112115 )

• 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

increased mammary gland tumor incidence ( J:112115 )

• 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

increased mammary gland tumor incidence ( J:112115 )

• 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

Genotype
MGI:3664440

cn5

• Allelic Composition: Blm^tm1Ches/Blm^tm4Ches; Tg(LGB-cre)74Acl/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA * SJL

neoplasm

increased mammary adenocarcinoma incidence ( J:112115 )

• in mice aged 13-19 months, mammary tumors, mainly adenocarcinomas, developed in 7/25 females compared to 1/20 non-conditional knockout mice

• no tumor cell lines could be produced from tumors for analyses of chromosomal instability in these mice

endocrine/exocrine glands

increased mammary adenocarcinoma incidence ( J:112115 )

• in mice aged 13-19 months, mammary tumors, mainly adenocarcinomas, developed in 7/25 females compared to 1/20 non-conditional knockout mice

• no tumor cell lines could be produced from tumors for analyses of chromosomal instability in these mice

integument

increased mammary adenocarcinoma incidence ( J:112115 )

• in mice aged 13-19 months, mammary tumors, mainly adenocarcinomas, developed in 7/25 females compared to 1/20 non-conditional knockout mice

• no tumor cell lines could be produced from tumors for analyses of chromosomal instability in these mice

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