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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Col27a1tm1.1Rpbh
targeted mutation 1.1, Raymond P Boot-Handford
MGI:5315592
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh involves: 129S1/Sv * 129X1/SvJ MGI:5315595
cn2
 		Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh
Tg(Col2a1-cre)1Asz/0 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:5315597


Genotype
MGI:5315595
hm1
Allelic
Composition		 Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col27a1tm1.1Rpbh mutation (0 available); any Col27a1 mutation (79 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
abnormal long bone epiphyseal plate proliferative zone ( J:182341 )
• some mice display a slight disordering of the proliferative zone with limited clustering of cells
sternebra fusion ( J:182341 )
• fusion of the 4th and 5th sternebrae at birth




Genotype
MGI:5315597
cn2
Allelic
Composition		 Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh
Tg(Col2a1-cre)1Asz/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col27a1tm1.1Rpbh mutation (0 available); any Col27a1 mutation (79 available)
Tg(Col2a1-cre)1Asz mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
domed cranium ( J:182341 )
• slight
abnormal pelvic girdle bone morphology ( J:182341 )
• distortion of the pelvis
abnormal thoracic cage shape ( J:182341 )
• slight distortion
kyphosis ( J:182341 )
• mild thoracic kyphosis
abnormal epiphyseal plate morphology ( J:182341 )
• severely disrupted in perinatal mice but proliferative chondrocytes show some signs of flattening and columnar organization
• architecture remains disrupted at 3 weeks of age
abnormal long bone epiphyseal plate proliferative zone ( J:182341 )
• in some cases flattened proliferative chondrocytes are orientated at right angles to their normal plane and located between the vertical stacks of cells
• absence of a translucent pericellular matrix in mice at 3 weeks of age

growth/size/body
short snout ( J:182341 )
decreased body size ( J:182341 )
• strikingly dwarfed
decreased body weight ( J:182341 )
• about half the body weight of littermate controls

respiratory system
respiratory system phenotype ( J:182341 )
N
• unlike in null mice, breathing is normal

reproductive system
reproductive system phenotype ( J:182341 )
N
• males are fertile

craniofacial
domed cranium ( J:182341 )
• slight




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory