Phenotypes associated with this allele

• Allele Symbol: Ilf3^tm1Pnk
• Allele Name: targeted mutation 1, Peter N Kao
• Allele ID: MGI:3586304
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ilf3^tm1Pnk/Ilf3^tm1Pnk	involves: 129S1/Sv * 129X1/SvJ	MGI:3604750
ht2	Ilf3^tm1Pnk/Ilf3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4818418

Genotype
MGI:3604750

hm1

• Allelic Composition: Ilf3^tm1Pnk/Ilf3^tm1Pnk
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:99935 )

• about 50% of homozygotes die immediately after birth and none survive more than 12 hours

muscle

abnormal skeletal muscle morphology ( J:99935 )

• the back muscles display fewer muscle fibers, a greater variability in muscle fiber size, and myofibers with eosinophilic and homogeneous cytoplasm

abnormal skeletal muscle fiber morphology ( J:99935 )

• nuclei appear larger and more multinucleated giant cell fusing myocytes are seen

thin diaphragm muscle ( J:99935 )

• the diaphragm has fewer muscle fibers, a greater variability in muscle fiber size, myofibers with eosinophilic and homogeneous cytoplasm, and is thinner compared to heterozygous or wild-type littermates

abnormal intercostal muscle morphology ( J:99935 )

• fewer muscle fibers, a greater variability in muscle fiber size, and myofibers with eosinophilic and homogeneous cytoplasm are seen

respiratory system

tachypnea ( J:99935 )

• breathing is rapid and shallow; however lung development and lung inflation are normal

homeostasis/metabolism

cyanosis ( J:99935 )

• homozygotes become increasingly cyanotic after birth

behavior/neurological

abnormal suckling behavior ( J:99935 )

• homozygotes never suckle

weakness ( J:99935 )

no spontaneous movement ( J:99935 )

• almost no spontaneous movement is seen

cellular

increased apoptosis ( J:99935 )

• apoptotic cells are more prominent in multiple organs at E19 and in newborns

growth/size/body

decreased birth body size ( J:99935 )

• homozygotes are smaller than control littermates at birth

decreased birth weight ( J:99935 )

• homozygotes weigh 35% less than control littermates at birth

Genotype
MGI:4818418

ht2

• Allelic Composition: Ilf3^tm1Pnk/Ilf3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

immune system

immune system phenotype ( J:161086 )

N • CD4+ T cells exhibit normal Th2 polarization