Phenotypes associated with this allele

• Allele Symbol: Pcsk5^tm2.1Prat
• Allele Name: targeted mutation 2.1, Annik Prat
• Allele ID: MGI:3789184
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcsk5^tm2.1Prat/Pcsk5^tm2.1Prat	involves: 129 * C57BL/6 * SJL	MGI:3796236
ht2	Pcsk5^tm2.1Prat/Pcsk5^vcc	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3797215
cn3	Meox2^tm1(cre)Sor/Meox2^+ Pcsk5^tm2Prat/Pcsk5^tm2.1Prat	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ	MGI:3797216
cn4	Meox2^tm1(cre)Sor/0 Pcsk5^tm2Prat/Pcsk5^tm2.1Prat	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL	MGI:3796238

Genotype
MGI:3796236

hm1

• Allelic Composition: Pcsk5^tm2.1Prat/Pcsk5^tm2.1Prat
• Genetic Background: involves: 129 * C57BL/6 * SJL

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

mortality/aging

embryonic lethality, complete penetrance ( J:134264 )

• no homozygotic pups are observed from mating of heterozygote parents

Genotype
MGI:3797215

ht2

• Allelic Composition: Pcsk5^tm2.1Prat/Pcsk5^vcc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

cardiovascular system

vascular ring ( J:136243 )

• mice exhibit an aortic vascular ring

persistent truncus arteriosus ( J:136243 )

double outlet right ventricle ( J:136243 )

atrial septal defect ( J:136243 )

dextrocardia ( J:136243 )

ventricular septal defect ( J:136243 )

limbs/digits/tail

abnormal hindlimb morphology ( J:136243 )

absent tail ( J:136243 )

digestive/alimentary system

abnormal palate morphology ( J:136243 )

• absent

tracheoesophageal fistula ( J:136243 )

renal/urinary system

absent kidney ( J:136243 )

nervous system

abnormal spinal cord morphology ( J:136243 )

• mice exhibit a presacral mass protruding ventrally from the caudal end of the spinal cord and vertebral column

craniofacial

abnormal palate morphology ( J:136243 )

• absent

respiratory system

tracheoesophageal fistula ( J:136243 )

pulmonary hypoplasia ( J:136243 )

• in the left lung

skeleton

abnormal vertebral column morphology ( J:136243 )

• mice exhibit a presacral mass protruding ventrally from the caudal end of the spinal cord and vertebral column

growth/size/body

abnormal palate morphology ( J:136243 )

• absent

omphalocele ( J:136243 )

Genotype
MGI:3797216

cn3

• Allelic Composition: Meox2^tm1(cre)Sor/Meox2⁺; Pcsk5^tm2Prat/Pcsk5^tm2.1Prat
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

cardiovascular system

right aortic arch ( J:136243 )

vascular ring ( J:136243 )

• mice exhibit an aortic vascular ring

abnormal heart morphology ( J:136243 )

• cardiac malformations

double outlet right ventricle ( J:136243 )

transposition of great arteries ( J:136243 )

atrial septal defect ( J:136243 )

dextrocardia ( J:136243 )

• dextroposition (one of four)

ventricular septal defect ( J:136243 )

skeleton

abnormal skeleton morphology ( J:136243 )

• mice exhibit axial and appendicular skeletal defects similar to those in Pcsk5^vcc homozygotes

abnormal vertebral column morphology ( J:136243 )

• mice exhibit a presacral mass protruding ventrally from the caudal end of the spinal cord and vertebral column in mice lacking a tail

digestive/alimentary system

abnormal palate morphology ( J:136243 )

• absent

tracheoesophageal fistula ( J:136243 )

limbs/digits/tail

short hindlimb ( J:136243 )

short tail ( J:136243 )

• in some mice

absent tail ( J:136243 )

• in some mice

respiratory system

tracheoesophageal fistula ( J:136243 )

pulmonary hypoplasia ( J:136243 )

• in the left lung

renal/urinary system

absent kidney ( J:136243 )

nervous system

abnormal spinal cord morphology ( J:136243 )

• mice exhibit a presacral mass protruding ventrally from the caudal end of the spinal cord and vertebral column in mice lacking a tail

craniofacial

abnormal palate morphology ( J:136243 )

• absent

growth/size/body

abnormal palate morphology ( J:136243 )

• absent

omphalocele ( J:136243 )

Genotype
MGI:3796238

cn4

• Allelic Composition: Meox2^tm1(cre)Sor/0; Pcsk5^tm2Prat/Pcsk5^tm2.1Prat
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:134264 )

• embryoes that express the cre knock-in allele during development die at birth from respiratory distress

growth/size/body

decreased body size ( J:134264 )

• E18.5 embryos are smaller than controls

limbs/digits/tail

short tail ( J:134264 )

• E18.5 pups have shortened or absent tails

absent tail ( J:134264 )

• E18.5 pups have shortened or absent tails

respiratory system

atelectasis ( J:134264 )

• the airways and alveoli of E18.5 embryos are collapsed

respiratory failure ( J:134264 )

• pups die at birth from apparent respiratory failure

skeleton

abnormal sternocostal joint morphology ( J:134264 )

• 18.5 embryos have incomplete closure of the sternum

asymmetric sternocostal joints ( J:134264 )

• 18.5 embryos have an assymmetric fusion of the ribs to the sternum

increased rib number ( J:134264 )

• 14 of 15 embryos have one to three additional ribs attached to the sternum

vertebral transformation ( J:134264 )

• 10 of 15 embryos have 3 to 4 additional thoracic vertebrae, 8 lumbar vertebrae, and only three to nine sacral and caudal vertebrae

• none of the embryos have the normal complement of vertebraes

delayed bone ossification ( J:134264 )

• ossification is retarded namely in the mandibles, nasal bone, vertebrae and limbs

renal/urinary system

absent kidney ( J:134264 )

• all E18.5 embryos lack at least one kidney with only 1/6^th of the mice having a normal kidney

digestive/alimentary system

herniated intestine ( J:134264 )

• most E18.5 embryos have abdominal herniations

cardiovascular system

hemorrhage ( J:134264 )

• subepidermal hemorrhages occur on the head or along the spine amongst the smallest 18.5 embryos