Phenotypes Associated with This Genotype

Genotype
MGI:5505899

• Allelic Composition: Rnf168^{Gt(156B6)Cmhd}/Rnf168^{Gt(156B6)Cmhd}
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

reproductive system

abnormal male germ cell morphology ( J:198260 )

♂ • increased vacuolization at 12 months

decreased male germ cell number ( J:198260 )

♂ • lack or reduced number of spermatids in seminiferous tubules at 12 months

abnormal Leydig cell morphology ( J:198260 )

• increased vacuolization at 12 months

small testis ( J:198260 )

♂ • at 12 months but not 8 weeks

testicular atrophy ( J:198260 )

♂ • at 12 months but not 8 weeks

decreased litter size ( J:198260 )

reduced male fertility ( J:198260 )

♂ • at 12 months but not 8 weeks

immune system

immune system phenotype ( J:198260 )

N • T cell and stimulated B cell proliferation is normal

abnormal class switch recombination ( J:198260 )

• directly impaired class switch recombination

• lower frequency of Smu-Sgamma1 switch recombination

• increased frequency of long nucleotide insertions at the class switch recombination junctions

abnormal T cell receptor delta chain V(D)J recombination ( J:198260 )

• reduced

increased double-negative T cell number ( J:198260 )

increased DN3 thymocyte number ( J:198260 )

decreased gamma-delta T cell number ( J:198260 )

• in the thymus

decreased IgG level ( J:198260 )

• at 6 to 8 weeks and 9 to 12 months

decreased IgG1 level ( J:198260 )

• fewer IgG1-expressing B cells in Peyer's patches

• reduced secretion from B cells stimulated with LPS and IL4

decreased IgG2a level ( J:198260 )

• reduced secretion from B cells stimulated with LPS and IL4

decreased IgG3 level ( J:198260 )

• fewer IgG3-expressing B cells in Peyers patches

• reduced secretion from B cells stimulated with LPS and IL4

cellular

abnormal male germ cell morphology ( J:198260 )

♂ • increased vacuolization at 12 months

decreased male germ cell number ( J:198260 )

♂ • lack or reduced number of spermatids in seminiferous tubules at 12 months

abnormal cell cycle checkpoint function ( J:198260 )

• irradiated mouse embryonic fibroblasts accumulate at the G2/M phase

• however, activation of the G1/S checkpoint is normal

increased cellular sensitivity to ionizing radiation ( J:198260 )

• in lymphocytes

increased cellular sensitivity to ultraviolet irradiation ( J:198260 )

• in lymphocytes

chromosomal instability ( J:198260 )

• spontaneous chromosome aberration in LPS stimulated B cells

• following exposure to ionizing radiation

neoplasm

neoplasm ( J:198260 )

N • mice do not develop tumors over a 1 year period

endocrine/exocrine glands

increased DN3 thymocyte number ( J:198260 )

abnormal Leydig cell morphology ( J:198260 )

• increased vacuolization at 12 months

small testis ( J:198260 )

♂ • at 12 months but not 8 weeks

testicular atrophy ( J:198260 )

♂ • at 12 months but not 8 weeks

hematopoietic system

abnormal class switch recombination ( J:198260 )

• directly impaired class switch recombination

• lower frequency of Smu-Sgamma1 switch recombination

• increased frequency of long nucleotide insertions at the class switch recombination junctions

abnormal T cell receptor delta chain V(D)J recombination ( J:198260 )

• reduced

increased double-negative T cell number ( J:198260 )

increased DN3 thymocyte number ( J:198260 )

decreased gamma-delta T cell number ( J:198260 )

• in the thymus

decreased IgG level ( J:198260 )

• at 6 to 8 weeks and 9 to 12 months

decreased IgG1 level ( J:198260 )

• fewer IgG1-expressing B cells in Peyer's patches

• reduced secretion from B cells stimulated with LPS and IL4

decreased IgG2a level ( J:198260 )

• reduced secretion from B cells stimulated with LPS and IL4

decreased IgG3 level ( J:198260 )

• fewer IgG3-expressing B cells in Peyers patches

• reduced secretion from B cells stimulated with LPS and IL4

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
RIDDLE syndrome		DOID:0090113	OMIM:611943	J:198260