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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Slx1btm1.1Jrou
targeted mutation 1.1, John Rouse
MGI:5559221
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Slx1btm1.1Jrou/Slx1btm1.1Jrou involves: 129P2/OlaHsd * C57BL/6 MGI:5559491
cx2
 		Fan1tm1.1Jrou/Fan1tm1.1Jrou
Slx1btm1.1Jrou/Slx1btm1.1Jrou 		involves: 129P2/OlaHsd MGI:5897801
cx3
 		Mus81tm1Chmg/Mus81tm1Chmg
Slx1btm1.1Jrou/Slx1btm1.1Jrou 		involves: 129P2/OlaHsd * 129S5/SvEvBrd * C57BL/6 MGI:5559494


Genotype
MGI:5559491
hm1
Allelic
Composition		 Slx1btm1.1Jrou/Slx1btm1.1Jrou
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slx1btm1.1Jrou mutation (0 available); any Slx1b mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:204996 )
N
• mice exhibit normal fertility and testes size

cellular
increased sensitivity to induced cell death ( J:204996 )
• in mouse embryonic fibroblasts treated with DNA interstrand crosslinking agents (nitrogen mustard and MMC)
• however, cellular sensitivity to camptothecin, ionizing radiation, hydroxyurea or UV light is normal
abnormal DNA repair ( J:204996 )
• mouse embryonic fibroblasts depleted of Blm exhibit impaired Holliday junction resolution compared with wild-type cells
induced chromosome breakage ( J:204996 )
• chromatid breaks and radial structures in MMC-treated mouse embryonic fibroblasts

homeostasis/metabolism
abnormal DNA repair ( J:204996 )
• mouse embryonic fibroblasts depleted of Blm exhibit impaired Holliday junction resolution compared with wild-type cells

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Fanconi-like syndrome DOID:0090066 OMIM:227850
 J:204996




Genotype
MGI:5897801
cx2
Allelic
Composition		 Fan1tm1.1Jrou/Fan1tm1.1Jrou
Slx1btm1.1Jrou/Slx1btm1.1Jrou
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fan1tm1.1Jrou mutation (0 available); any Fan1 mutation (99 available)
Slx1btm1.1Jrou mutation (0 available); any Slx1b mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
increased physiological sensitivity to xenobiotic ( J:232403 )
• increase in sensitivity to mitomycin C compared to either single homozygote




Genotype
MGI:5559494
cx3
Allelic
Composition		 Mus81tm1Chmg/Mus81tm1Chmg
Slx1btm1.1Jrou/Slx1btm1.1Jrou
Genetic
Background		 involves: 129P2/OlaHsd * 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mus81tm1Chmg mutation (0 available); any Mus81 mutation (31 available)
Slx1btm1.1Jrou mutation (0 available); any Slx1b mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:204996 )
N
• mice exhibit normal fertility and testes size

cellular
increased sensitivity to induced cell death ( J:204996 )
• in mouse embryonic fibroblasts treated with DNA interstrand crosslinking agents (MMC) to the same extent as in single homozygotes
• however, MMC-induced increase in sister chromatid exchange frequency is normal in mouse embryonic fibroblasts
abnormal DNA repair ( J:204996 )
• Blm-depleted mouse embryonic fibroblasts exhibit reduced sister chromatid exchange frequency as in single homozygotes

homeostasis/metabolism
abnormal DNA repair ( J:204996 )
• Blm-depleted mouse embryonic fibroblasts exhibit reduced sister chromatid exchange frequency as in single homozygotes




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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory