Phenotypes Associated with This Genotype

Genotype
MGI:3713780

• Allelic Composition: Ewsr1^tm1Sblee/Ewsr1^tm1Sblee
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss

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

mortality/aging

increased mortality induced by gamma-irradiation ( J:122058 )

• by 60 days, 6 of 7 mice are dead or moribund while 8 of 9 wild-type mice survived pass 120 days

preweaning lethality, incomplete penetrance ( J:122058 )

• Background Sensitivity: 90% of mice die prior to weaning whereas lethality was 100% on a pure 129/SvEv background or a mixed 129S6 and C57BL/6 background

reproductive system

abnormal spermatid morphology ( J:122058 )

♂ • spermatids are disorganized and reduced in number

abnormal spermatocyte morphology ( J:122058 )

♂ • primary spermocytes are disorganized and reduced in number

abnormal ovary morphology ( J:122058 )

♀ • at 12 weeks, maturing ovarian follicles are absent and there is a mild proliferation of interstitial cells

absent corpus luteum ( J:122058 )

♀

absent mature ovarian follicles ( J:122058 )

♀ • at 12 weeks, maturing ovarian follicles are absent

small ovary ( J:122058 )

♀

abnormal testis morphology ( J:122058 )

♂

small testis ( J:122058 )

♂

abnormal male meiosis ( J:122058 )

♂ • one third of pachytene staged cells exhibit an asynapsis of the XY chromosome and only 9 of 195 nuclei have a univalent XY

♂ • meiotic recombination does not occur

female infertility ( J:122058 )

♀

male infertility ( J:122058 )

♂

immune system

thymus hypoplasia ( J:122058 )

decreased leukocyte cell number ( J:122058 )

• lymphopenia

decreased immature B cell number ( J:122058 )

• immature (B220+CD43-) B cells are reduced in the bone marrow and spleen

decreased double-positive T cell number ( J:122058 )

• slight

decreased mature B cell number ( J:122058 )

• mature (IgM^hiIgD^hi) B cells are reduced in the bone marrow and spleen

decreased pre-B cell number ( J:122058 )

• pre-B cell compartment in the bone marrow is reduced

• progenitor cells fail to differentiate into pr-B cells in vitro but differentiation of other lineages is normal

spleen hypoplasia ( J:122058 )

growth/size/body

decreased body weight ( J:122058 )

• mice are smaller at birth and remain so

postnatal growth retardation ( J:122058 )

cellular

abnormal spermatid morphology ( J:122058 )

♂ • spermatids are disorganized and reduced in number

abnormal spermatocyte morphology ( J:122058 )

♂ • primary spermocytes are disorganized and reduced in number

abnormal cell nucleus morphology ( J:122058 )

• enlarged

early cellular replicative senescence ( J:122058 )

• in vitro

skeleton

kyphosis ( J:122058 )

decreased bone mineral density ( J:122058 )

muscle

muscular atrophy ( J:122058 )

• atrophy of the muscle accompanying atrophied fat pads in the skin

adipose tissue

absent subcutaneous adipose tissue ( J:122058 )

endocrine/exocrine glands

thymus hypoplasia ( J:122058 )

abnormal ovary morphology ( J:122058 )

♀ • at 12 weeks, maturing ovarian follicles are absent and there is a mild proliferation of interstitial cells

absent corpus luteum ( J:122058 )

♀

absent mature ovarian follicles ( J:122058 )

♀ • at 12 weeks, maturing ovarian follicles are absent

small ovary ( J:122058 )

♀

abnormal testis morphology ( J:122058 )

♂

small testis ( J:122058 )

♂

hematopoietic system

thymus hypoplasia ( J:122058 )

decreased leukocyte cell number ( J:122058 )

• lymphopenia

decreased immature B cell number ( J:122058 )

• immature (B220+CD43-) B cells are reduced in the bone marrow and spleen

decreased double-positive T cell number ( J:122058 )

• slight

decreased mature B cell number ( J:122058 )

• mature (IgM^hiIgD^hi) B cells are reduced in the bone marrow and spleen

decreased pre-B cell number ( J:122058 )

• pre-B cell compartment in the bone marrow is reduced

• progenitor cells fail to differentiate into pr-B cells in vitro but differentiation of other lineages is normal

spleen hypoplasia ( J:122058 )

integument

absent subcutaneous adipose tissue ( J:122058 )

homeostasis/metabolism

increased mortality induced by gamma-irradiation ( J:122058 )

• by 60 days, 6 of 7 mice are dead or moribund while 8 of 9 wild-type mice survived pass 120 days