Phenotypes associated with this allele

• Allele Symbol: C9orf72^tm1Lagi
• Allele Name: targeted mutation 1, Clotilde Lagier-Tourenne
• Allele ID: MGI:5779391
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	C9orf72^tm1Lagi/C9orf72^tm1Lagi	involves: C57BL/6 * C57BL/6N	MGI:5779402

Genotype
MGI:5779402

hm1

• Allelic Composition: C9orf72^tm1Lagi/C9orf72^tm1Lagi
• Genetic Background: involves: C57BL/6 * C57BL/6N

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

mortality/aging

premature death ( J:232242 )

• 7% of mice survive to 20 months of age, however, survival is similar to control up to 11 months of age

behavior/neurological

impaired coordination ( J:232242 )

• mild motor deficits on rotarod at 12 months of age, however, no differences in grip strength, gait or general activity

abnormal social investigation ( J:232242 )

• slightly decreased social interaction as determined by time spent with other mice at 12 months of age

• slightly decreased social recognition as determined by time spent with novel mouse at 12 months of age

hematopoietic system

enlarged spleen ( J:232242 )

• splenomegaly by 12 months of age, however, total number of lymphoid cells is unchanged

• myeloid cells are dramatically increased

decreased hematocrit ( J:232242 )

• decreased packed cell volume

decreased hemoglobin content ( J:232242 )

• decreased hemoglobin

increased neutrophil cell number ( J:232242 )

• increased percentage of neutrophils in blood

decreased lymphocyte cell number ( J:232242 )

• decreased percentage of lymphocytes in blood

immune system

enlarged spleen ( J:232242 )

• splenomegaly by 12 months of age, however, total number of lymphoid cells is unchanged

• myeloid cells are dramatically increased

increased neutrophil cell number ( J:232242 )

• increased percentage of neutrophils in blood

decreased lymphocyte cell number ( J:232242 )

• decreased percentage of lymphocytes in blood

abnormal celiac lymph node morphology ( J:232242 )

• splenic lymph node architecture is disrupted

abnormal lymph node cell ratio ( J:232242 )

• splenic lymph nodes exhibit an increase in myeloid cells, but no change in number of lymphoid cells

abnormal cervical lymph node morphology ( J:232242 )

• cervical lymph node architecture is disrupted

enlarged cervical lymph nodes ( J:232242 )

• enlarged cervical lymph notes at 12 months of age

• numbers of lymphoid and myeloid cells are increased by more than an order of magnitude

growth/size/body

decreased body weight ( J:232242 )

• reduced body weight by 6 months of age

enlarged spleen ( J:232242 )

• splenomegaly by 12 months of age, however, total number of lymphoid cells is unchanged

• myeloid cells are dramatically increased