Phenotypes associated with this allele

• Allele Symbol: Picalm^tm1Towa
• Allele Name: targeted mutation 1, Toshio Watanabe
• Allele ID: MGI:5430167
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Picalm^tm1Towa/Picalm^tm1Towa	B6.Cg-Picalm^tm1Towa	MGI:5430174
hm2	Picalm^tm1Towa/Picalm^tm1Towa	involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj	MGI:5430173

Genotype
MGI:5430174

hm1

• Allelic Composition: Picalm^tm1Towa/Picalm^tm1Towa
• Genetic Background: B6.Cg-Picalm^tm1Towa

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

mortality/aging

lethality, complete penetrance ( J:185312 )

• Background Sensitivity: no mice are obtained unlike on a mixed background

Genotype
MGI:5430173

hm2

• Allelic Composition: Picalm^tm1Towa/Picalm^tm1Towa
• Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

Growth retardation and anemia in Picalm^tm1Towa/Picalm^tm1Towa mice

mortality/aging

postnatal lethality, incomplete penetrance ( J:185312 )

• nearly all mice die between birth and weaning

hematopoietic system

enlarged spleen ( J:185312 )

abnormal erythropoiesis ( J:185312 )

• erythroid cell maturation is severely impaired compared with wild-type mice

• transplantation experiments reveal that erythroid defects are cell autonomous

abnormal B cell differentiation ( J:185312 )

• impaired

hypochromic microcytic anemia ( J:185312 )

• severe

abnormal bone marrow cell morphology/development ( J:185312 )

• pale

decreased bone marrow cell number ( J:185312 )

decreased erythroid progenitor cell number ( J:185312 )

decreased erythrocyte cell number ( J:185312 )

decreased hemoglobin content ( J:185312 )

decreased mean corpuscular hemoglobin ( J:185312 )

decreased spleen B cell follicle number ( J:185312 )

• absent

abnormal erythrocyte physiology ( J:185312 )

• erythroid cells exhibit reduced iron incorporation compared with wild-type cells

• erythrocytes and embryonic fibroblasts exhibit impaired clathrin-merythrocytes and embryonic fibroblasts exhibit impaired clathrin-mediated endocytosis of transferrin compared with wild-type cellsediated endocytosis of transferrin compared with wild-type cells

growth/size/body

decreased embryo weight ( J:185312 )

• at E14.5

decreased body size ( J:185312 )

decreased body weight ( J:185312 )

• at weaning

postnatal growth retardation ( J:185312 )

fetal growth retardation ( J:185312 )

enlarged spleen ( J:185312 )

homeostasis/metabolism

abnormal iron homeostasis ( J:185312 )

• erythroid cells exhibit reduced iron incorporation compared with wild-type cells

hemosiderosis ( J:185312 )

• 3 times wild-type levels

cellular

abnormal cell physiology ( J:185312 )

• erythrocytes and embryonic fibroblasts exhibit impaired clathrin-mediated endocytosis of transferrin compared with wild-type cells

embryo

decreased embryo weight ( J:185312 )

• at E14.5

immune system

enlarged spleen ( J:185312 )

abnormal B cell differentiation ( J:185312 )

• impaired

decreased spleen B cell follicle number ( J:185312 )

• absent

liver/biliary system

abnormal hepatocyte physiology ( J:185312 )

• ballooning and granular degeneration