Phenotypes Associated with This Genotype

Genotype
MGI:4438619

• Allelic Composition: Pkdcc^tm1.1Mask/Pkdcc^tm1.1Mask
• Genetic Background: involves: C57BL/6 * CBA * FVB/N

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

mortality/aging

neonatal lethality, complete penetrance ( J:158147 )

• mice die soon after birth due to respiratory failure

skeleton

abnormal craniofacial bone morphology ( J:158147 )

small maxilla ( J:158147 )

short maxilla ( J:158147 )

abnormal nasal capsule morphology ( J:158147 )

• small and severely shortened

abnormal long bone morphology ( J:158147 )

increased diameter of humerus ( J:158147 )

short humerus ( J:158147 )

short radius ( J:158147 )

increased diameter of radius ( J:158147 )

short ulna ( J:158147 )

increased diameter of ulna ( J:158147 )

delayed chondrocyte differentiation ( J:158147 )

• differentiation of hypertrophic chondrocytes is retarded compared to in wild-type mice

delayed bone ossification ( J:158147 )

• limb and vertebral ossification is suppressed compared to in wild-type mice

• however, membranous bone formation is normal

respiratory system

abnormal nasal capsule morphology ( J:158147 )

• small and severely shortened

abnormal lung morphology ( J:158147 )

• surfactant C+ cells are abnormally found in the alveolar lining and in the interstitial region

impaired lung alveolus development ( J:158147 )

• mice exhibit defective sacculation and retarded acinar formation compared to in wild-type mice

abnormal pulmonary alveolus morphology ( J:158147 )

• mice exhibit a decrease in the number of alveoli compared with wild-type mice

thick pulmonary interalveolar septum ( J:158147 )

respiratory failure ( J:158147 )

• soon after birth

craniofacial

abnormal craniofacial morphology ( J:158147 )

• at birth

abnormal craniofacial bone morphology ( J:158147 )

small maxilla ( J:158147 )

short maxilla ( J:158147 )

abnormal nasal capsule morphology ( J:158147 )

• small and severely shortened

cleft palate ( J:158147 )

abnormal palatal shelf elevation ( J:158147 )

• severely disturbed unilaterally or bilaterally

growth/size/body

abnormal nasal capsule morphology ( J:158147 )

• small and severely shortened

cleft palate ( J:158147 )

abnormal palatal shelf elevation ( J:158147 )

• severely disturbed unilaterally or bilaterally

decreased birth body size ( J:158147 )

homeostasis/metabolism

cyanosis ( J:158147 )

behavior/neurological

absent gastric milk in neonates ( J:158147 )

digestive/alimentary system

cleft palate ( J:158147 )

abnormal palatal shelf elevation ( J:158147 )

• severely disturbed unilaterally or bilaterally

limbs/digits/tail

abnormal limb morphology ( J:158147 )

increased diameter of humerus ( J:158147 )

short humerus ( J:158147 )

short radius ( J:158147 )

increased diameter of radius ( J:158147 )

short ulna ( J:158147 )

increased diameter of ulna ( J:158147 )

short limbs ( J:158147 )