Phenotypes associated with this allele

• Allele Symbol: Pkdcc^tm1.2Azun
• Allele Name: targeted mutation 1.2, Aimee Zuniga
• Allele ID: MGI:5523590
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkdcc^tm1.2Azun/Pkdcc^tm1.2Azun	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5523592
cx2	Gli3^tm1.2Zllr/Gli3^tm1.2Zllr Pkdcc^tm1.2Azun/Pkdcc^tm1.2Azun	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5523593
cx3	Gli3^tm1.2Zllr/Gli3^+ Pkdcc^tm1.2Azun/Pkdcc^tm1.2Azun	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5523594

Genotype
MGI:5523592

hm1

• Allelic Composition: Pkdcc^tm1.2Azun/Pkdcc^tm1.2Azun
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:199462 )

digestive/alimentary system

cleft secondary palate ( J:199462 )

respiratory system

respiratory failure ( J:199462 )

skeleton

decreased length of long bones ( J:199462 )

• shorter ossified section at birth

short humerus ( J:199462 )

• tibia and humerus are most severely affected

short tibia ( J:199462 )

• tibia and humerus are most severely affected

abnormal cartilage development ( J:199462 )

• chondrocyte maturation is delayed by at least 2 days with columnar chondrocytes first detected in long bone rudiments at E15.5 instead of E13.5 as in controls

delayed endochondral bone ossification ( J:199462 )

• in long bones

• primary ossification centers have not yet formed at E16.5 in the humerus

growth/size/body

cleft secondary palate ( J:199462 )

decreased birth body size ( J:199462 )

• appear smaller than littermates

craniofacial

cleft secondary palate ( J:199462 )

limbs/digits/tail

short humerus ( J:199462 )

• tibia and humerus are most severely affected

short tibia ( J:199462 )

• tibia and humerus are most severely affected

Genotype
MGI:5523593

cx2

• Allelic Composition: Gli3^tm1.2Zllr/Gli3^tm1.2Zllr; Pkdcc^tm1.2Azun/Pkdcc^tm1.2Azun
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

skeleton

absent fibula ( J:199462 )

• the primordia of the tibia and fibula are ectromelic at E16.5

absent tibia ( J:199462 )

• the primordia of the tibia and fibula are ectromelic at E16.5

abnormal scapula morphology ( J:199462 )

• deformed in some mice at E16.5

abnormal cartilage development ( J:199462 )

• at E16.5 few or no columnar and hypertrophic chondrocytes are detected in the limbs

• hypertrophic differentiation is delayed

• expression analysis indicates the number of pre-hypertrophic chondrocytes is severely reduced in the limbs at E15.5 and E16.5

delayed endochondral bone ossification ( J:199462 )

• at E16.5 no signs of ossification are seen in the humerus, tibia, fibula or digits and mineralization domains in other long bones are reduced

• delay is more severe than in mice homozygous for Pkdcc^tm1.2Azun alone

limbs/digits/tail

polydactyly ( J:199462 )

absent fibula ( J:199462 )

• the primordia of the tibia and fibula are ectromelic at E16.5

absent tibia ( J:199462 )

• the primordia of the tibia and fibula are ectromelic at E16.5

Genotype
MGI:5523594

cx3

• Allelic Composition: Gli3^tm1.2Zllr/Gli3⁺; Pkdcc^tm1.2Azun/Pkdcc^tm1.2Azun
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

skeleton

decreased length of long bones ( J:199462 )

• shorter ossified section at birth

• more severe than in mice homozygous for the Pkdcc mutation alone

short humerus ( J:199462 )

• tibia and humerus are most severely affected

short tibia ( J:199462 )

• tibia and humerus are most severely affected

abnormal scapula morphology ( J:199462 )

• deformed in some mice at E16.5

delayed endochondral bone ossification ( J:199462 )

• in long bones

• more severe than in mice homozygous for the Pkdcc mutation alone

limbs/digits/tail

short humerus ( J:199462 )

• tibia and humerus are most severely affected

short tibia ( J:199462 )

• tibia and humerus are most severely affected