Phenotypes associated with this allele

• Allele Symbol: Col27a1^tm1.2Rpbh
• Allele Name: targeted mutation 1.2,Raymond P Boot-Handford
• Allele ID: MGI:5315593
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col27a1^tm1.2Rpbh/Col27a1^tm1.2Rpbh	involves: 129S1/Sv * 129X1/SvJ	MGI:5315596

Genotype
MGI:5315596

hm1

• Allelic Composition: Col27a1^tm1.2Rpbh/Col27a1^tm1.2Rpbh
• 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:182341 )

• fail to breath

respiratory system

abnormal lung morphology ( J:182341 )

• hypercellular at E18.5

abnormal pulmonary alveolar sac morphology ( J:182341 )

• poorly developed airspaces at E18.5

respiratory failure ( J:182341 )

• at birth

skeleton

abnormal skeleton morphology ( J:182341 )

• shorter endochondral bones throughout the body

mandibular retrognathia ( J:182341 )

• receding lower jaw

domed cranium ( J:182341 )

• slight

decreased length of long bones ( J:182341 )

sternebra fusion ( J:182341 )

• fusion of the 4th and 5th sternebrae at birth in some mice

split xiphoid process ( J:182341 )

• cleft

short sternum ( J:182341 )

abnormal chondrocyte morphology ( J:182341 )

• at E16.5 and E18.5, chondrocytes remain less flattened and display a reduced tendency to organize into columns or to develop a translucent pericellular region

abnormal epiphyseal plate morphology ( J:182341 )

• severely disrupted architecture

abnormal long bone epiphyseal plate proliferative zone ( J:182341 )

• absence of a translucent pericellular matrix

• microfibrillar material fills the space between adjacent cells and the microfibils are oriented perpendicular to the plasma membrane

chondrodystrophy ( J:182341 )

• severe chondrodysplasia

abnormal chondrocyte physiology ( J:182341 )

• decreased secretion of COL27A1 in the proliferative zone is reduced at E18.5

growth/size/body

decreased fetal size ( J:182341 )

• marginally smaller at E18.5

embryo

umbilical hernia ( J:182341 )

• develop a midline hernia when the umbilical cord is removed

limbs/digits/tail

short limbs ( J:182341 )

craniofacial

mandibular retrognathia ( J:182341 )

• receding lower jaw

domed cranium ( J:182341 )

• slight