Phenotypes associated with this allele

• Allele Symbol: AA467197^em1Nyam
• Allele Name: endonuclease-mediated mutation 1, Noritaka Yamaguchi
• Allele ID: MGI:7624377
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	AA467197^em1Nyam/AA467197^em1Nyam	C57BL/6J-AA467197^em1Nyam	MGI:7624448
hm2	AA467197^em1Nyam/AA467197^em1Nyam	C.B6-AA467197^em1Nyam	MGI:7624456
cx3	AA467197^em1Nyam/AA467197^em1Nyam Tg(CAG-EGFP/Map1lc3b)53Nmz/0	involves: C57BL/6J * C57BL/6NCrlj * DBA/2	MGI:7624460

Genotype
MGI:7624448

hm1

• Allelic Composition: AA467197^em1Nyam/AA467197^em1Nyam
• Genetic Background: C57BL/6J-AA467197^em1Nyam

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

cellular

increased cellular ATP level ( J:347271 )

• primary embryonic fibroblasts show increased intracellular ATP levels

impaired autophagy ( J:347271 )

• primary embryonic fibroblasts show a reduction in basal autophagy

increased cellular sensitivity to hydrogen peroxide ( J:347271 )

• primary embryonic fibroblasts show decreased cell viability following hydrogen peroxide treatment indicating increased sensitivity to oxidative stress

abnormal mitochondrial physiology ( J:347271 )

• primary embryonic fibroblasts show upregulation in mitochondrial membrane potential

endocrine/exocrine glands

abnormal thymus cortex morphology ( J:347271 )

• numbers of cortical thymic epithelial cells (cTECs) are slightly reduced

• however, mice show normal thymus weight and total thymic cell number and numbers and ratios of each subset of total thymocytes are not affected

abnormal thymus medulla morphology ( J:347271 )

• numbers of Post-Aire medullary thymic epithelial cells (mTECs) are slightly reduced

hematopoietic system

abnormal thymus cortex morphology ( J:347271 )

• numbers of cortical thymic epithelial cells (cTECs) are slightly reduced

• however, mice show normal thymus weight and total thymic cell number and numbers and ratios of each subset of total thymocytes are not affected

abnormal thymus medulla morphology ( J:347271 )

• numbers of Post-Aire medullary thymic epithelial cells (mTECs) are slightly reduced

decreased CD4-positive, alpha-beta T cell number ( J:347271 )

• the ratio of the mature 2 (M2) subfraction of CD4 single positive cells is slightly reduced

• however, no change is detected in the number or ratio of CD8 single positive cells and positive selection of thymocytes appears normal, with mice showing unchanged numbers and percentages of immature CD3^lo CD69^hi cells, CD3^int CD69^lo, CD3^int CD69^hi cells, CD3^hi CD69^hi cells, and CD3^hi CD69^lo cells, and numbers and percentages of Helios+ cells (post-negative selection thymocytes) and CD25+ Foxp3+ cells (Tregs) are unaffected

increased IgG level ( J:347271 )

• kidneys show increased deposits of IgG in glomerulus-like structures

homeostasis/metabolism

increased cellular ATP level ( J:347271 )

• primary embryonic fibroblasts show increased intracellular ATP levels

impaired autophagy ( J:347271 )

• primary embryonic fibroblasts show a reduction in basal autophagy

decreased glutathione level ( J:347271 )

• primary embryonic fibroblasts show a reduction in glutathione levels

immune system

abnormal thymus cortex morphology ( J:347271 )

• numbers of cortical thymic epithelial cells (cTECs) are slightly reduced

• however, mice show normal thymus weight and total thymic cell number and numbers and ratios of each subset of total thymocytes are not affected

abnormal thymus medulla morphology ( J:347271 )

• numbers of Post-Aire medullary thymic epithelial cells (mTECs) are slightly reduced

decreased CD4-positive, alpha-beta T cell number ( J:347271 )

• the ratio of the mature 2 (M2) subfraction of CD4 single positive cells is slightly reduced

• however, no change is detected in the number or ratio of CD8 single positive cells and positive selection of thymocytes appears normal, with mice showing unchanged numbers and percentages of immature CD3^lo CD69^hi cells, CD3^int CD69^lo, CD3^int CD69^hi cells, CD3^hi CD69^hi cells, and CD3^hi CD69^lo cells, and numbers and percentages of Helios+ cells (post-negative selection thymocytes) and CD25+ Foxp3+ cells (Tregs) are unaffected

increased IgG level ( J:347271 )

• kidneys show increased deposits of IgG in glomerulus-like structures

liver inflammation ( J:347271 )

• mice show enhanced infiltration of inflammatory cells in the liver

kidney inflammation ( J:347271 )

• mice show enhanced infiltration of inflammatory cells in the kidney

lung inflammation ( J:347271 )

• mice show enhanced infiltration of inflammatory cells in the lungs

liver/biliary system

liver inflammation ( J:347271 )

• mice show enhanced infiltration of inflammatory cells in the liver

renal/urinary system

kidney inflammation ( J:347271 )

• mice show enhanced infiltration of inflammatory cells in the kidney

abnormal kidney morphology ( J:347271 )

• kidneys show increased deposits of IgG in glomerulus-like structures

respiratory system

lung inflammation ( J:347271 )

• mice show enhanced infiltration of inflammatory cells in the lungs

Genotype
MGI:7624456

hm2

• Allelic Composition: AA467197^em1Nyam/AA467197^em1Nyam
• Genetic Background: C.B6-AA467197^em1Nyam

immune system

increased susceptibility to autoimmune disorder ( J:347271 )

• transplantation of fetal thymic stroma, which was obtained by depleting hematopoietic cells from the embryonic thymus, into the renal capsules of athymic nude mice results in high immune reactivities against mouse tissue sections of lacrimal glands, submandibular glands, eyes, ovaries, kidneys, lungs, and livers and enhanced infiltration of inflammatory cells is lacrimal glands, submandibular glands, lungs, kidneys, and livers, indicating that engraftment of null thymus in nude mice causes autoimmunity

Genotype
MGI:7624460

cx3

• Allelic Composition: AA467197^em1Nyam/AA467197^em1Nyam; Tg(CAG-EGFP/Map1lc3b)53Nmz/0
• Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * DBA/2

cellular

impaired autophagy ( J:347271 )

• autophagy is diminished in medullary thymic epithelial cells (mTECs) and is slightly, but significantly, reduced in cortical thymic epithelial cells (cTECs), indicating reduced stress-independent autophagy induction

• however, starvation-induced autophagy is not affected

homeostasis/metabolism

impaired autophagy ( J:347271 )

• autophagy is diminished in medullary thymic epithelial cells (mTECs) and is slightly, but significantly, reduced in cortical thymic epithelial cells (cTECs), indicating reduced stress-independent autophagy induction

• however, starvation-induced autophagy is not affected