Phenotypes associated with this allele

• Allele Symbol: Plagl1^tm1Jour
• Allele Name: targeted mutation 1, Laurent Journot
• Allele ID: MGI:3693683
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Plagl1^tm1Jour/Plagl1^tm1Jour	B6.129P2-Plagl1^tm1Jour	MGI:3695031
ht2	Plagl1^tm1Jour/Plagl1^+	B6.129P2-Plagl1^tm1Jour	MGI:3695032
ht3	Plagl1^tm1Jour/Plagl1^+	CBA.129P2-Plagl1^tm1Jour	MGI:3695033

Genotype
MGI:3695031

hm1

• Allelic Composition: Plagl1^tm1Jour/Plagl1^tm1Jour
• Genetic Background: B6.129P2-Plagl1^tm1Jour

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

growth/size/body

decreased birth weight ( J:116147 )

• body weight is reduced by ~23% at birth (P0) compared to wild-type or heterozygotes with maternally inherited allele

Genotype
MGI:3695032

ht2

• Allelic Composition: Plagl1^tm1Jour/Plagl1⁺
• Genetic Background: B6.129P2-Plagl1^tm1Jour

mortality/aging

neonatal lethality, incomplete penetrance ( J:116147 )

• 50% of mice with paternally inherited allele die within 24 hours after birth

postnatal lethality, incomplete penetrance ( J:116147 )

• litters obtained from heterozygous males mated with wild-type females have about 20% of the expected number of heterozygotes compared to heterozygous female/wild-type male matings when genotyped at 3 weeks

• 20% of pups with paternally inherited allele surviving past first day after birth die before day 3; no animals with obvious malformations survive past day 3

• Background Sensitivity: lethality is greater than on a CBA congenic background

growth/size/body

decreased birth weight ( J:116147 )

• at birth, weight is reduced 23% in heterozygotes inheriting mutated allele paternally

• mice with paternally inherited allele display reduced lung and heart weight relative to body weight

decreased fetal weight ( J:116147 )

• at E16.5, weight reduction is 11% in heterozygotes inheriting mutated allele paternally

limbs/digits/tail

abnormal phalanx morphology ( J:116147 )

• abnormal ossification of last forelimb phalanx with paternally inherited allele

abnormal talus morphology ( J:116147 )

• abnormal ossification

abnormal caudal vertebrae morphology ( J:116147 )

• the most caudal vertebrae show abnormal ossification with paternally inherited allele

curly tail ( J:116147 )

• 1/3 of mice with paternally inherited allele have curly tails

respiratory system

atelectasis ( J:116147 )

• lungs are not inflated or imperfectly inflated in mice that die after birth

respiratory distress ( J:116147 )

• with paternally inherited allele, heterozygotes display dyspnea at birth

cardiovascular system

decreased heart weight ( J:116147 )

• mice with paternally inherited allele display reduced heart weight relative to body weight

skeleton

abnormal phalanx morphology ( J:116147 )

• abnormal ossification of last forelimb phalanx with paternally inherited allele

abnormal talus morphology ( J:116147 )

• abnormal ossification

abnormal caudal vertebrae morphology ( J:116147 )

• the most caudal vertebrae show abnormal ossification with paternally inherited allele

abnormal bone ossification ( J:116147 )

• mice with paternally inherited allele show abnormal ossification of the most caudal vertebrae, ankle bones and last forelimb phalanx

cellular

maternal imprinting ( J:116147 )

• mice receiving paternal copy of null allele are phenotypically abnormal and display significant postnatal lethality

integument

wrinkled skin ( J:116147 )

• 1/3 of mice with paternally inherited allele display wrinkled skin

Genotype
MGI:3695033

ht3

• Allelic Composition: Plagl1^tm1Jour/Plagl1⁺
• Genetic Background: CBA.129P2-Plagl1^tm1Jour

mortality/aging

postnatal lethality ( J:116147 )

• Background Sensitivity: lethality with paternally inherited allele is observed on this background, but is less than on a C57BL/6J congenic background

cellular

maternal imprinting ( J:116147 )

• mice receiving paternal copy of null allele are phenotypically abnormal and display postnatal lethality