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: 2 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	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:7446247

hm2

• 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)