Phenotypes Associated with This Genotype

Genotype
MGI:5559491

• Allelic Composition: Slx1b^tm1.1Jrou/Slx1b^tm1.1Jrou
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

• ♀: 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