All Phenotypes Col27a1<tm1.1Rpbh> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col27a1^tm1.1Rpbh/Col27a1^tm1.1Rpbh	involves: 129S1/Sv * 129X1/SvJ	MGI:5315595
cn2	Col27a1^tm1.1Rpbh/Col27a1^tm1.1Rpbh Tg(Col2a1-cre)1Asz/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:5315597

Allelic Composition	Col27a1^tm1.1Rpbh/Col27a1^tm1.1Rpbh
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col27a1^tm1.1Rpbh 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

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

skeleton

domed cranium ( J:182341 )

• slight

decreased length of long bones ( J:182341 )

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

short snout ( J:182341 )

Contributing Projects: 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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