Phenotypes associated with this allele

• Allele Symbol: Peds1^{tm1a(KOMP)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4363077
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Peds1^tm1a(KOMP)Wtsi/Peds1^tm1a(KOMP)Wtsi	B6Brd;B6Dnk;B6N-Peds1^tm1a(KOMP)Wtsi Tyr^c-Brd/Wtsi	MGI:5701020
hm2	Peds1^tm1a(KOMP)Wtsi/Peds1^tm1a(KOMP)Wtsi	B6Dnk;B6Brd;B6N-Tyr^c-Brd Peds1^tm1a(KOMP)Wtsi/Wtsi	MGI:7703622
hm3	Peds1^tm1a(KOMP)Wtsi/Peds1^tm1a(KOMP)Wtsi	involves: C57BL/6N	MGI:7446247

Genotype
MGI:5701020

hm1

• Allelic Composition: Peds1^{tm1a(KOMP)Wtsi}/Peds1^{tm1a(KOMP)Wtsi}
• Genetic Background: B6Brd;B6Dnk;B6N-Peds1^{tm1a(KOMP)Wtsi} Tyr^c-Brd/Wtsi
• Cell Lines: EPD0026_4_C08

Data Sources

IMPC Data for Peds1

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

behavior/neurological

absent pinna reflex ( J:211773 )

IMPC - WTSI

craniofacial

abnormal incisor color ( J:211773 )

♀

IMPC - WTSI

growth/size/body

abnormal incisor color ( J:211773 )

♀

IMPC - WTSI

decreased lean body mass ( J:211773 )

♀

IMPC - WTSI

hematopoietic system

decreased erythrocyte cell number ( J:211773 )

IMPC - WTSI

decreased hematocrit ( J:211773 )

IMPC - WTSI

decreased hemoglobin content ( J:211773 )

IMPC - WTSI

increased mean corpuscular volume ( J:211773 )

♀

IMPC - WTSI

increased mean platelet volume ( J:211773 )

IMPC - WTSI

homeostasis/metabolism

decreased circulating fructosamine level ( J:211773 )

♀

IMPC - WTSI

decreased circulating calcium level ( J:211773 )

IMPC - WTSI

skeleton

abnormal incisor color ( J:211773 )

♀

IMPC - WTSI

decreased bone mineral density ( J:211773 )

♀

IMPC - WTSI

vision/eye

abnormal retina morphology ( J:211773 )

♀

IMPC - WTSI

Genotype
MGI:7703622

hm2

• Allelic Composition: Peds1^{tm1a(KOMP)Wtsi}/Peds1^{tm1a(KOMP)Wtsi}
• Genetic Background: B6Dnk;B6Brd;B6N-Tyr^c-Brd Peds1^{tm1a(KOMP)Wtsi}/Wtsi
• Cell Lines: EPD0026_4_C08

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:333103 )

♂N • mice show unchanged protein levels of FAR1 (fatty acyl CoA reductase 1, the rate-limiting enzyme in peroxisomal ether lipid biosynthesis) in the cerebral cortex relative to wild-type controls

abnormal ether lipid level ( J:333103 )

♂ • 8-week-old mice show a strong reduction of plasmenyl lipids and a concomitant massive accumulation of plasmanyl lipids found not only in many classes of glycerophospholipids but also in neutral ether lipids, leading to increased total ether lipid levels in brain (cerebrum and cerebellum), kidney, and subcutaneous and visceral white adipose tissue (WAT)

♂ • a dramatic reduction in all analyzed plasmalogen subclasses is seen in the cerebrum, kidney and subcutaneous WAT (sWAT); in brain, this is accompanied by a dramatic increase of all analyzed plasmanyl species highest in plasmanyl lysophosphatidylethanolamine (LPE[O]) followed by plasmanyl lysophosphatidylcholine (LPC[O]), plasmanyl diacylglycerol ((DG[O]) and plasmanyl phosphatidylethanolmanine (PE[O])

♂ • similar but weaker accumulations of plasmanyl lipids are detected in sWAT, while in kidney only PE[O] and LPE[O] subclasses are enriched

♂ • in addition, kidney shows a slight reduction in plasmanyl phosphatidylcholine (PC[O]), which is in contrast to the general trend of PC[O] accumulation detected in the other tested tissues

♂ • however, total phosphatidylethanolamines levels remain remarkably constant, as the amount of accumulating plasmanylethanolamines (PE[O]) mirrors the decrease in the amount of plasmenylethanolamines (PE[P])

decreased plasmalogen level ( J:333103 )

♂ • mice show a dramatic reduction in all analyzed plasmalogen subclasses in the brain, kidney and sWAT

decreased brain plasmalogen level ( J:333103 )

♂ • mice show a striking reduction in the vast majority of plasmenyl lipid species in both brain regions analyzed (cerebrum and cerebellum)

nervous system

decreased brain plasmalogen level ( J:333103 )

♂ • mice show a striking reduction in the vast majority of plasmenyl lipid species in both brain regions analyzed (cerebrum and cerebellum)

Genotype
MGI:7446247

hm3

• Allelic Composition: Peds1^{tm1a(KOMP)Wtsi}/Peds1^{tm1a(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N
• Cell Lines: EPD0026_4_C08

growth/size/body

decreased body weight ( J:287476 )

• both sexes show a significant reduction in body weight from 3 to 8 weeks of age

homeostasis/metabolism

decreased plasmalogen level ( J:287476 )

• at 8 weeks of age, both sexes show a nearly complete loss of plasmalogens in the kidney

• in addition, plasmalogens are severely reduced in the brain, liver, lung, spleen, testis, ovary, heart, colon, brown adipose tissue, subcutaneous white adipose tissue, visceral white adipose tissue, and skeletal muscle

decreased brain plasmalogen level ( J:287476 )

• at 8 weeks of age, plasmalogens are severely reduced in both brain tissues analyzed (cerebrum and cerebellum)

abnormal enzyme/coenzyme activity ( J:287476 )

• at 8 weeks of age, both sexes have no detectable plasmanylethanolamine desaturase activity in the kidney

nervous system

decreased brain plasmalogen level ( J:287476 )

• at 8 weeks of age, plasmalogens are severely reduced in both brain tissues analyzed (cerebrum and cerebellum)