All Phenotypes Col2a1<Lpk> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col2a1^Lpk/Col2a1^Lpk	involves: C3H/HeH * C57BL/6J	MGI:5441255
ht2	Col2a1^Lpk/Col2a1⁺	C.B6(C3)-Col2a1^Lpk	MGI:5441254
ht3	Col2a1^Lpk/Col2a1⁺	either: C3H.Cg-Col2a1^Lpk/H or (involves: C3H/HeH * C57BL/6J)	MGI:3847805
ht4	Col2a1^Lpk/Col2a1⁺	involves: C3H/HeH * C57BL/6J	MGI:5441253

Allelic Composition	Col2a1^Lpk/Col2a1^Lpk
Genetic Background	involves: C3H/HeH * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1^Lpk mutation (2 available); any Col2a1 mutation (68 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:187141 )

skeleton

decreased length of long bones ( J:187141 )

• shorter and wider than heterozygous mice

increased diameter of long bones ( J:187141 )

• shorter and wider than heterozygous mice

abnormal cartilage morphology ( J:187141 )

• contains chondrocytes with multiple distended cytoplasmic vacuoles, increased ratio of the number of cells with chondroptotic nuclei and enlarged endoplasmic reticulum with amorphous inclusions

disorganized long bone epiphyseal plate ( J:187141 )

abnormal cartilage development ( J:187141 )

• impaired chondrocyte development

abnormal long bone epiphyseal plate proliferative zone ( J:187141 )

• abnormal direction of proliferating chondrocytes

abnormal chondrocyte morphology ( J:187141 )

• reduced fibril content

• contains chondrocytes with multiple distended cytoplasmic vacuoles, increased ratio of the number of cells with chondroptotic nuclei and enlarged endoplasmic reticulum with amorphous inclusions

growth/size/body

cleft palate ( J:187141 )

decreased fetal size ( J:187141 )

• at E17.5

craniofacial

cleft palate ( J:187141 )

digestive/alimentary system

cleft palate ( J:187141 )

Allelic Composition	Col2a1^Lpk/Col2a1⁺
Genetic Background	C.B6(C3)-Col2a1^Lpk

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1^Lpk mutation (2 available); any Col2a1 mutation (68 available)

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

skeleton

abnormal skeleton morphology ( J:187141 )

• authors state that mice exhibit the same phenotype as mice on a mixed C3H/HeH and C57BL/6J background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondyloepiphyseal dysplasia congenita		DOID:14789	OMIM:183900	J:187141

Allelic Composition	Col2a1^Lpk/Col2a1⁺
Genetic Background	either: C3H.Cg-Col2a1^Lpk/H or (involves: C3H/HeH * C57BL/6J)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1^Lpk mutation (2 available); any Col2a1 mutation (68 available)

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

limbs/digits/tail

short limbs ( J:148829 )

• mutant mice exhibit shortening of the forelimbs and, to a lesser extent, of the hindlimbs

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

skeleton

abnormal elbow joint morphology ( J:187141 )

• abnormal joint between the humerus, ulna and radius with restricted articulation and osteophyte-like features

abnormal limb long bone morphology ( J:187141 )

short humerus ( J:187141 )

• disproportionately

abnormal ulna morphology ( J:187141 )

• osteophyte-like features on the ulna

short ulna ( J:187141 )

short femur ( J:187141 )

short tibia ( J:187141 )

abnormal long bone metaphysis morphology ( J:187141 )

• reduced trabecular bone in the metaphysis below the displaced growth plate

short lumbar vertebrae ( J:187141 )

• shorter and wider

abnormal bone structure ( J:187141 )

decreased bone mineral density ( J:187141 )

decreased bone volume ( J:187141 )

increased compact bone thickness ( J:187141 )

• in the humerus likely due to increased mechanical loading

abnormal trabecular bone morphology ( J:187141 )

• increased structural modeling index

• reduced trabecular bone in the metaphysis below the displaced growth plate

decreased trabecular bone volume ( J:187141 )

decreased bone trabecula number ( J:187141 )

abnormal cartilage morphology ( J:187141 )

• contains chondrocytes with multiple distended cytoplasmic vacuoles, increased ratio of the number of cells with chondroptotic nuclei and enlarged endoplasmic reticulum with amorphous inclusions

abnormal chondrocyte morphology ( J:187141 )

• contains chondrocytes with multiple distended cytoplasmic vacuoles, increased ratio of the number of cells with chondroptotic nuclei and enlarged endoplasmic reticulum with amorphous inclusions

abnormal skeleton development ( J:187141 )

abnormal long bone epiphysis morphology ( J:187141 )

• flattened by P26 with reduced distance between the articular cartilage and the proximal humeral growth plate

• displacement of the proximal humeral epiphysis and bridging of the growth plate at 9 to 12 weeks

• premature closure by P56

abnormal cartilage development ( J:187141 )

• impaired chondrocyte development

abnormal epiphyseal plate morphology ( J:187141 )

• loss of growth plate polarity and organization by P14

• growth plates lack columns of proliferating chondrocytes and hypertrophic chondrocytes

• wider at P28 and P56

abnormal long bone epiphyseal ossification zone morphology ( J:187141 )

• the ossification zone is shorter than in control mice by P26

decreased width of hypertrophic chondrocyte zone ( J:187141 )

disorganized long bone epiphyseal plate ( J:187141 )

abnormal skeleton physiology ( J:187141 )

abnormal bone ossification ( J:187141 )

• impaired formation of secondary ossification centers by P14

delayed endochondral bone ossification ( J:187141 )

abnormal joint mobility ( J:187141 )

• abnormal joint between the humerus, ulna and radius with restricted articulation and osteophyte-like features

growth/size/body

short snout ( J:187141 )

decreased body weight ( J:187141 )

craniofacial

short snout ( J:187141 )

limbs/digits/tail

abnormal elbow joint morphology ( J:187141 )

• abnormal joint between the humerus, ulna and radius with restricted articulation and osteophyte-like features

abnormal limb long bone morphology ( J:187141 )

short humerus ( J:187141 )

• disproportionately

abnormal ulna morphology ( J:187141 )

• osteophyte-like features on the ulna

short ulna ( J:187141 )

short femur ( J:187141 )

short tibia ( J:187141 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondyloepiphyseal dysplasia congenita		DOID:14789	OMIM:183900	J:187141

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/09/2024 MGI 6.23