Phenotypes Associated with This Genotype

Genotype
MGI:4357934

• Allelic Composition: Abl1^m1/Abl1^m1
• Genetic Background: either: 129S/SvEv-Abl1^m1 or (involves: 129S/SvEv * CD-1) or (involves: 129S/SvEv * C57BL/6 * DBA/2)

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

mortality/aging

premature death ( J:14644 )

• animals surviving to weaning are highly susceptible to infection

• only about 15% survive to 6 weeks of age

postnatal lethality, incomplete penetrance ( J:14644 )

• homozygous growth and development grossly normal through E17

• 75% of pups die within the first week after birth

growth/size/body

decreased body weight ( J:14644 )

• young pups weigh 30-80% as much as controls

• low body weight persists through life

immune system

abnormal immune system cell morphology ( J:14644 )

abnormal B cell differentiation ( J:14644 )

• mature B cell population in bone marrow seems unaffected

• mature B cell numbers in peripheral blood and lymph nodes are normal

decreased immature B cell number ( J:14644 )

• depleted by half to 2/3

decreased pro-B cell number ( J:14644 )

• severely reduced in number

decreased pre-B cell number ( J:14644 )

• depleted by half to 2/3 1n bone marrow

• depletion less severe in the spleen

• pre-B cell numbers normal in newborn spleen but become reduced over time

abnormal T cell number ( J:14644 )

decreased single-positive T cell number ( J:14644 )

• somewhat reduced CD4+ and CD8+ cells in peripheral blood

increased single-positive T cell number ( J:14644 )

• elevated CD4+ and CD8+ cells in the spleen

abnormal immune system organ morphology ( J:14644 )

abnormal thymus morphology ( J:14644 )

• involuted thymi frequently found in mice dead at weaning

thymus cortex hypoplasia ( J:14644 )

• in mice dead at weaning

thymus hypoplasia ( J:14644 )

• small thymus in many newborns

• 1/3 as many cells as in controls

decreased thymocyte number ( J:14644 )

• early thymocyte numbers are sometimes reduced

abnormal spleen morphology ( J:14644 )

• round kidney shaped spleens

spleen hypoplasia ( J:14644 )

• cell numbers in new born spleens about 50% of controls

abnormal spleen white pulp morphology ( J:14644 )

• white pulp depleted in mice showing extreme B cell depletion

abnormal spleen germinal center morphology ( J:14644 )

increased susceptibility to infection ( J:14644 )

• animals surviving to weaning are highly susceptible to infection

skeleton

decreased cranium height ( J:14644 )

• slight shortening of the skull

vision/eye

cataract ( J:14644 )

• cataracts often develop

eyelids open at birth ( J:14644 )

• many born with eyes open

• eyes often become damaged

hematopoietic system

abnormal thymus morphology ( J:14644 )

• involuted thymi frequently found in mice dead at weaning

thymus cortex hypoplasia ( J:14644 )

• in mice dead at weaning

thymus hypoplasia ( J:14644 )

• small thymus in many newborns

• 1/3 as many cells as in controls

decreased thymocyte number ( J:14644 )

• early thymocyte numbers are sometimes reduced

abnormal B cell differentiation ( J:14644 )

• mature B cell population in bone marrow seems unaffected

• mature B cell numbers in peripheral blood and lymph nodes are normal

decreased immature B cell number ( J:14644 )

• depleted by half to 2/3

decreased pro-B cell number ( J:14644 )

• severely reduced in number

decreased pre-B cell number ( J:14644 )

• depleted by half to 2/3 1n bone marrow

• depletion less severe in the spleen

• pre-B cell numbers normal in newborn spleen but become reduced over time

abnormal T cell number ( J:14644 )

decreased single-positive T cell number ( J:14644 )

• somewhat reduced CD4+ and CD8+ cells in peripheral blood

increased single-positive T cell number ( J:14644 )

• elevated CD4+ and CD8+ cells in the spleen

abnormal spleen morphology ( J:14644 )

• round kidney shaped spleens

spleen hypoplasia ( J:14644 )

• cell numbers in new born spleens about 50% of controls

abnormal spleen white pulp morphology ( J:14644 )

• white pulp depleted in mice showing extreme B cell depletion

abnormal spleen germinal center morphology ( J:14644 )

craniofacial

decreased cranium height ( J:14644 )

• slight shortening of the skull

endocrine/exocrine glands

abnormal thymus morphology ( J:14644 )

• involuted thymi frequently found in mice dead at weaning

thymus cortex hypoplasia ( J:14644 )

• in mice dead at weaning

thymus hypoplasia ( J:14644 )

• small thymus in many newborns

• 1/3 as many cells as in controls

decreased thymocyte number ( J:14644 )

• early thymocyte numbers are sometimes reduced