Phenotypes Associated with This Genotype

Genotype
MGI:5140353

• Allelic Composition: Rpl27a^Sfa/Rpl27a⁺
• Genetic Background: C57BL/6J-Rpl27a^Sfa

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

mortality/aging

increased mortality induced by gamma-irradiation ( J:174216 )

• minimally affected mice (near normal body weight and minimal ataxia) all died less than 20 days after treatment with a sub-lethal (for wild-type controls) dose of gamma irradiation

postnatal lethality, incomplete penetrance ( J:174216 )

• about 20% of affected mice die in early postnatal development

behavior/neurological

ataxia ( J:174216 )

• variable penetrance

• cerebellar ataxia with an unsteady gait and consistent falling

impaired coordination ( J:174216 )

growth/size/body

increased ear pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the ears

decreased body weight ( J:174216 )

• variable penetrance

postnatal growth retardation ( J:174216 )

• seriously affected mice are unable to undertake the rapid growth spurt that normally occurs 19 - 30 days after birth

pigmentation

hyperpigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the tail, feet, ears and genital areas

increased ear pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the ears

increased foot pad pigmentation ( J:174216 )

increased tail pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the tail

hematopoietic system

increased hematopoietic stem cell proliferation ( J:174216 )

• significant increase in proliferation

• mice with the lowest HSC numbers have the highest proportion of proliferating HSCs

abnormal hematopoietic system morphology/development ( J:174216 )

• thin, watery blood in severely affected mice

small thymus ( J:174216 )

anemia ( J:174216 )

• variable penetrance

• bone marrow sections show hypocellularity indicative of aplastic anemia

decreased bone marrow cell number ( J:174216 )

• bone marrow sections show hypocellularity indicative of aplastic anemia

decreased hematopoietic cell number ( J:174216 )

decreased erythrocyte cell number ( J:174216 )

• 46% of wild-type numbers in affected mice

thrombocytopenia ( J:174216 )

• 30% of wild-type numbers in affected mice

decreased leukocyte cell number ( J:174216 )

• 14% of wild-type numbers in affected mice

decreased hematopoietic stem cell number ( J:174216 )

• about 40% of wild-type numbers in severely affected mice

pancytopenia ( J:174216 )

• in severely affected mice

small spleen ( J:174216 )

abnormal bone marrow cell physiology ( J:174216 )

• significant increase in bone marrow cell apoptosis in some mice

nervous system

abnormal cerebellum external granule cell layer morphology ( J:174216 )

• reduction in the number of proliferating cells and increase in apoptosis at P3

thin external granule cell layer ( J:174216 )

• small EGL at P2

abnormal cerebellar layer morphology ( J:174216 )

• severely disrupted layers at 12 -14 weeks

abnormal Purkinje cell morphology ( J:174216 )

• Purkinje neurons are disorganized in the cerebellum at 12 -14 weeks of age

ectopic Purkinje cell ( J:174216 )

• found ectopically located throughout the cerebellum at 12 -14 weeks of age

abnormal cerebellar granule layer morphology ( J:174216 )

• pronounced reduction in cell numbers at 12 - 14 weeks of age

decreased cerebellar granule cell number ( J:174216 )

small cerebellum ( J:174216 )

integument

increased ear pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the ears

increased foot pad pigmentation ( J:174216 )

increased tail pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the tail

limbs/digits/tail

increased foot pad pigmentation ( J:174216 )

increased tail pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the tail

immune system

small thymus ( J:174216 )

decreased leukocyte cell number ( J:174216 )

• 14% of wild-type numbers in affected mice

small spleen ( J:174216 )

craniofacial

increased ear pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the ears

hearing/vestibular/ear

increased ear pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the ears

cellular

increased hematopoietic stem cell proliferation ( J:174216 )

• significant increase in proliferation

• mice with the lowest HSC numbers have the highest proportion of proliferating HSCs

homeostasis/metabolism

increased mortality induced by gamma-irradiation ( J:174216 )

• minimally affected mice (near normal body weight and minimal ataxia) all died less than 20 days after treatment with a sub-lethal (for wild-type controls) dose of gamma irradiation

endocrine/exocrine glands

small thymus ( J:174216 )