Phenotypes associated with this allele

• Allele Symbol: Ampd3^{tm2a(KOMP)Wtsi}
• Allele Name: targeted mutation 2a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4364610
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ampd3^tm2a(KOMP)Wtsi/Ampd3^tm2a(KOMP)Wtsi	B6JTyr;B6N-Ampd3^tm2a(KOMP)Wtsi/Wtsi	MGI:5781565
hm2	Ampd3^tm2a(KOMP)Wtsi/Ampd3^tm2a(KOMP)Wtsi	involves: C57BL/6N * C57BL/6NHsd	MGI:5559173
cx3	Ampd2^tm1Tm/Ampd2^tm1Tm Ampd3^tm2a(KOMP)Wtsi/Ampd3^tm2a(KOMP)Wtsi	involves: 129S2/SvPas * C57BL/6N	MGI:5559171

Genotype
MGI:5781565

hm1

• Allelic Composition: Ampd3^{tm2a(KOMP)Wtsi}/Ampd3^{tm2a(KOMP)Wtsi}
• Genetic Background: B6JTyr;B6N-Ampd3^{tm2a(KOMP)Wtsi}/Wtsi
• Cell Lines: EPD0043_3_B02

Data Sources

IMPC Data for Ampd3

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

behavior/neurological

abnormal behavior ( J:175295 )

♀

IMPC - WTSI

immune system

increased leukocyte cell number ( J:165965 )

♂

IMPC - WTSI

hematopoietic system

increased leukocyte cell number ( J:165965 )

♂

IMPC - WTSI

Genotype
MGI:5559173

hm2

• Allelic Composition: Ampd3^{tm2a(KOMP)Wtsi}/Ampd3^{tm2a(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N * C57BL/6NHsd
• Cell Lines: EPD0043_3_B02

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:206035 )

N • fasted mice exhibit normal blood glucose levels

abnormal enzyme/coenzyme level ( J:206035 )

• erythrocytes exhibit no measurable AMP deaminase activity unlike in wild-type mice

• reduced AMP deaminase activity in the heart compared with wild-type mice

abnormal oxygen consumption ( J:206035 )

• mice exhibit increased sensitivity to 5'AMP induced hypometabolism as measured by oxygen consumption compared with wild-type mice

abnormal nucleotide metabolism ( J:206035 )

• elevated ATP and ADP levels in erythrocytes

• however, 5'AMP levels in erythrocytes are normal

Genotype
MGI:5559171

cx3

• Allelic Composition: Ampd2^tm1Tm/Ampd2^tm1Tm; Ampd3^{tm2a(KOMP)Wtsi}/Ampd3^{tm2a(KOMP)Wtsi}
• Genetic Background: involves: 129S2/SvPas * C57BL/6N
• Cell Lines: EPD0043_3_B02

mortality/aging

postnatal lethality, complete penetrance ( J:200072 )

• lifespan is limited to 2 to 3 weeks

nervous system

neurodegeneration ( J:200072 )

• after P14, mostly affecting the CA3 pyramidal neurons in the hippocampus with some pyknotic cells in the cortex and cerebellum

behavior/neurological

abnormal gait ( J:200072 )

growth/size/body

decreased body weight ( J:200072 )

• slight

homeostasis/metabolism

abnormal nucleotide metabolism ( J:200072 )

• increased ATP nucleotide levels in the brain at 2 weeks

• decreased GTP nucleotide levels in the brain at 2 weeks