Phenotypes associated with this allele

• Allele Symbol: Col2a1⁺
• Allele Name: wild type
• Allele ID: MGI:2430161
• Summary: 19 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Col2a1^tm1(SOX9)Crm/Col2a1^+	129S/Sv-Col2a1^tm1(SOX9)Crm	MGI:3045417
ht2	Col2a1^M2J/Col2a1^+	B6;C3Fe-Col2a1^M2J/GrsrJ	MGI:5292535
ht3	Col2a1^M3J/Col2a1^+	B6(Cg)-Col2a1^M3J/GrsrJ	MGI:5553144
ht4	Col2a1^m1Btlr/Col2a1^+	C57BL/6J-Col2a1^m1Btlr/Btlr	MGI:6761498
ht5	Col2a1^em1(IMPC)Ccpcz/Col2a1^+	C57BL/6NCrl-Col2a1^em1(IMPC)Ccpcz/Ccpcz	MGI:8176154
ht6	Col2a1^Lpk/Col2a1^+	C.B6(C3)-Col2a1^Lpk	MGI:5441254
ht7	Col2a1^Lpk/Col2a1^+	either: C3H.Cg-Col2a1^Lpk/H or (involves: C3H/HeH * C57BL/6J)	MGI:3847805
ht8	Col2a1^Dmm/Col2a1^+	involves: 101 * C3H	MGI:2677215
ht9	Col2a1^tm1Dshh/Col2a1^+	involves: 129S6/SvEvTac * C57BL/6J	MGI:5688304
ht10	Col2a1^tm1.1Ksec/Col2a1^+	involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6	MGI:4830262
ht11	Col2a1^tm1Prc/Col2a1^+	involves: 129/Sv * C57BL/6	MGI:2677040
ht12	Col2a1^tm1.1Ksec/Col2a1^+	involves: 129X1/SvJ * C57BL/6	MGI:4830260
ht13	Col2a1^Lpk/Col2a1^+	involves: C3H/HeH * C57BL/6J	MGI:5441253
ht14	Col2a1^Rgsc856/Col2a1^+	involves: C57BL/6JJcl * DBA/2JJcl	MGI:3808761
ht15	Col2a1^Rgsc413/Col2a1^+	involves: C57BL/6JJcl * DBA/2JJcl	MGI:3800693
cx16	Col2a1^tm1(SOX9)Crm/Col2a1^+ Sox9^tm1Crm/Sox9^+	involves: 129S4/SvJae	MGI:3045418
cx17	Bmpr1a^tm1Bhr/Bmpr1a^+ Col2a1^tm1.1Ksec/Col2a1^+	involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6	MGI:4830264
cx18	Col2a1^tm1.1Ksec/Col2a1^+ Nodal^tm1Rob/Nodal^+	involves: 129S/SvEv * 129X1/SvJ * C57BL/6	MGI:4830267
cx19	Col2a1^tm1Prc/Col2a1^+ Col9a1^tm1Jae/Col9a1^tm1Jae	involves: 129/Sv * 129S2/SvPas	MGI:3699109

Genotype
MGI:3045417

ht1

• Allelic Composition: Col2a1^tm1(SOX9)Crm/Col2a1⁺
• Genetic Background: 129S/Sv-Col2a1^tm1(SOX9)Crm

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

cellular

decreased chondrocyte proliferation ( J:90567 )

• chondrocyte proliferation reduced about 50%

mortality/aging

neonatal lethality, incomplete penetrance ( J:90567 )

• 80% die immediately after birth

craniofacial

abnormal craniofacial bone morphology ( J:90567 )

abnormal basicranium morphology ( J:90567 )

• delayed maturation and ossification

abnormal hyoid bone morphology ( J:90567 )

• delayed maturation and ossification

domed cranium ( J:90567 )

cleft secondary palate ( J:90567 )

• after E16.5, cleft secondary palate

short snout ( J:90567 )

• observed after E16.5

growth/size/body

abnormal hyoid bone morphology ( J:90567 )

• delayed maturation and ossification

cleft secondary palate ( J:90567 )

• after E16.5, cleft secondary palate

short snout ( J:90567 )

• observed after E16.5

decreased body size ( J:90567 )

• 20% of heterozygotes are viable and fertile but are growth retarded

limbs/digits/tail

radius hypoplasia ( J:90567 )

respiratory system

respiratory distress ( J:90567 )

• cause of death in newborns

• result of secondary palate and rib cage abnormalities

skeleton

decreased chondrocyte proliferation ( J:90567 )

• chondrocyte proliferation reduced about 50%

radius hypoplasia ( J:90567 )

decreased length of long bones ( J:90567 )

• endochondral bone elements all shorter

abnormal axial skeleton morphology ( J:90567 )

abnormal craniofacial bone morphology ( J:90567 )

abnormal basicranium morphology ( J:90567 )

• delayed maturation and ossification

abnormal hyoid bone morphology ( J:90567 )

• delayed maturation and ossification

domed cranium ( J:90567 )

small thoracic cage ( J:90567 )

• small rib cage

abnormal vertebrae morphology ( J:90567 )

• fused interlaminar joints of cervical and thoracic vertebrae in some cases

abnormal cartilage morphology ( J:90567 )

abnormal long bone epiphyseal plate morphology ( J:90567 )

• distortions in growth plates

digestive/alimentary system

cleft secondary palate ( J:90567 )

• after E16.5, cleft secondary palate

Genotype
MGI:5292535

ht2

• Allelic Composition: Col2a1^M2J/Col2a1⁺
• Genetic Background: B6;C3Fe-Col2a1^M2J/GrsrJ

A Col2a1^M2J/Col2a1⁺ mutant (left) and littermate control (right)

craniofacial

increased cranium length ( J:187363 )

• skull length is longer than normal in both males and females

cleft palate ( J:176116 , J:187363 )

short snout ( J:187363 )

digestive/alimentary system

cleft palate ( J:176116 , J:187363 )

adipose tissue

decreased percent body fat/body weight ( J:187363 )

♂

increased percent body fat/body weight ( J:187363 )

♀

growth/size/body

cleft palate ( J:176116 , J:187363 )

short snout ( J:187363 )

increased body weight ( J:187363 )

♀

skeleton

increased cranium length ( J:187363 )

• skull length is longer than normal in both males and females

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondyloepiphyseal dysplasia congenita		DOID:14789	OMIM:183900	J:222308

Genotype
MGI:5553144

ht3

• Allelic Composition: Col2a1^M3J/Col2a1⁺
• Genetic Background: B6(Cg)-Col2a1^M3J/GrsrJ

craniofacial

short snout ( J:206718 )

• heterozygotes have a shortened nose compared with wild type littermates

growth/size/body

short snout ( J:206718 )

• heterozygotes have a shortened nose compared with wild type littermates

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondyloepiphyseal dysplasia congenita		DOID:14789	OMIM:183900	J:222308

Genotype
MGI:6761498

ht4

• Allelic Composition: Col2a1^m1Btlr/Col2a1⁺
• Genetic Background: C57BL/6J-Col2a1^m1Btlr/Btlr

limbs/digits/tail

short femur ( J:309727 )

• intermediate

short tibia ( J:309727 )

• intermediate

skeleton

short femur ( J:309727 )

• intermediate

short tibia ( J:309727 )

• intermediate

Genotype
MGI:8176154

ht5

• Allelic Composition: Col2a1^{em1(IMPC)Ccpcz}/Col2a1⁺
• Genetic Background: C57BL/6NCrl-Col2a1^{em1(IMPC)Ccpcz}/Ccpcz

Data Sources

IMPC Data for Col2a1

craniofacial

abnormal cranium morphology ( J:211773 )

♂

IMPC - CCP-IMG

abnormal maxilla morphology ( J:211773 )

IMPC - CCP-IMG

abnormal zygomatic bone morphology ( J:211773 )

IMPC - CCP-IMG

growth/size/body

abnormal maxilla morphology ( J:211773 )

IMPC - CCP-IMG

abnormal zygomatic bone morphology ( J:211773 )

IMPC - CCP-IMG

hematopoietic system

increased monocyte cell number ( J:211773 )

♂

IMPC - CCP-IMG

abnormal spleen morphology ( J:211773 )

♂

IMPC - CCP-IMG

immune system

increased monocyte cell number ( J:211773 )

♂

IMPC - CCP-IMG

abnormal spleen morphology ( J:211773 )

♂

IMPC - CCP-IMG

integument

abnormal skin morphology ( J:211773 )

♀

IMPC - CCP-IMG

skeleton

abnormal cranium morphology ( J:211773 )

♂

IMPC - CCP-IMG

abnormal maxilla morphology ( J:211773 )

IMPC - CCP-IMG

abnormal zygomatic bone morphology ( J:211773 )

IMPC - CCP-IMG

kyphosis ( J:211773 )

♀

IMPC - CCP-IMG

Genotype
MGI:5441254

ht6

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

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

Genotype
MGI:3847805

ht7

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

limbs/digits/tail

short limbs ( J:148829 )

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

Genotype
MGI:2677215

ht8

• Allelic Composition: Col2a1^Dmm/Col2a1⁺
• Genetic Background: involves: 101 * C3H

mortality/aging

postnatal lethality, incomplete penetrance ( J:6582 )

• 25% greater risk of death before weaning than wild-type littermates

craniofacial

shortened head ( J:6582 )

• short, blunt head

growth/size/body

shortened head ( J:6582 )

• short, blunt head

abnormal postnatal growth/weight/body size ( J:6582 )

• broad rump

disproportionate dwarf ( J:6582 )

• not evident at birth, but apparent at 1 week after birth and progressive

limbs/digits/tail

short limbs ( J:6582 )

skeleton

abnormal long bone epiphysis morphology ( J:6582 )

• reduction in height of proliferative and hypertrophic zones, but normal organization

Genotype
MGI:5688304

ht9

• Allelic Composition: Col2a1^tm1Dshh/Col2a1⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

normal phenotype

no abnormal phenotype detected ( J:212712 )

• heterozygotes are viable and overtly normal with no detectable defects in skeletal development

• expression of several endoplasmic reticulum stress (ERS)-related genes is partly increased in chondrocytes, indicating limited ERS; however, ERS-unfolded protein response (UPR)-apoptosis is avoided such that normal growth plate structure and endochondral ossification process are preserved

Genotype
MGI:4830262

ht10

• Allelic Composition: Col2a1^tm1.1Ksec/Col2a1⁺
• Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

craniofacial

midface hypoplasia ( J:163739 )

• midface hypoplasia is seen in 3 of 20 mice

vision/eye

cyclopia ( J:163739 )

• seen in 3 of 20 mice

enophthalmos ( J:163739 )

• seen in 1 of 20 mice

growth/size/body

midface hypoplasia ( J:163739 )

• midface hypoplasia is seen in 3 of 20 mice

microcephaly ( J:163739 )

• seen in 3 of 20 mice

Genotype
MGI:2677040

ht11

• Allelic Composition: Col2a1^tm1Prc/Col2a1⁺
• Genetic Background: involves: 129/Sv * C57BL/6

mortality/aging

neonatal lethality, incomplete penetrance ( J:30041 )

• those with cleft palate, 5 of 120, were dead at birth or shortly thereafter

craniofacial

prominent forehead ( J:30041 )

• slightly bulged foreheads

cleft palate ( J:30041 )

• incomplete penetrance, 5 of 120

short snout ( J:30041 )

• compared to wild-type littermates

growth/size/body

prominent forehead ( J:30041 )

• slightly bulged foreheads

cleft palate ( J:30041 )

• incomplete penetrance, 5 of 120

short snout ( J:30041 )

• compared to wild-type littermates

decreased body size ( J:30041 )

• smaller than wild-type littermates at 19 days after birth

decreased fetal size ( J:30041 )

• smaller than wildtype at 15 days pc

limbs/digits/tail

short limbs ( J:30041 )

• compared to wild-type littermates

skeleton

abnormal chondrocyte morphology ( J:30041 )

• disorganized columnar array

abnormal skeleton development ( J:30041 )

• minor changes in gross development of skeleton and soft tissues, however normal extent of mineralization

abnormal cartilage development ( J:30041 )

vision/eye

vision/eye phenotype ( J:144313 )

N • despite eye abnormalities, no increase in retinal detachment is observed

abnormal anterior eye segment morphology ( J:144313 )

• the anterior eye segment exhibits decreased folding in the ciliary process with changes in the stromal extracellular matrix and vacuolization compared to in wild-type eyes

abnormal ciliary process morphology ( J:144313 )

• typical folding of ciliary processes is reduced

abnormal lens morphology ( J:144313 )

• the subcapsular extracellular matrix is abnormal

abnormal posterior eye segment morphology ( J:144313 )

• hyaluronic acid staining in the choroid is decreased in intensity compared to in wild-type mice

digestive/alimentary system

cleft palate ( J:30041 )

• incomplete penetrance, 5 of 120

homeostasis/metabolism

decreased hyaluronic acid level ( J:144313 )

• hyaluronic acid staining in the choroid is decreased in intensity compared to in wild-type mice

Genotype
MGI:4830260

ht12

• Allelic Composition: Col2a1^tm1.1Ksec/Col2a1⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

craniofacial

midface hypoplasia ( J:163739 )

• at E13.5 - E16.5 seen in some mice

embryo

abnormal mesendoderm development ( J:163739 )

• expression analysis indicates defects in the prechordal anterior mesendoderm

nervous system

abnormal forebrain development ( J:163739 )

• at E9.5 - E10.5 lack of separation of the forebrain vesicles is seen in some mice

growth/size/body

abnormal head morphology ( J:163739 )

• at E13.5 - E16.5 and at P1 2 of 26 and 2 of 22 mice, respectively, display head defects

• at E13.5 - E16.5 truncation of the frontonasal structures and midface hypoplasia are seen in some mice, but less frequently than in homozygous mutants

• head truncation is seen in some mice at E9.5 - E10.5

midface hypoplasia ( J:163739 )

• at E13.5 - E16.5 seen in some mice

Genotype
MGI:5441253

ht13

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

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

Genotype
MGI:3808761

ht14

• Allelic Composition: Col2a1^Rgsc856/Col2a1⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

Skeletal abnormalities in Col2a1^Rgsc856/Col2a1⁺ and Col2a1^Rgsc856/Col2a1^Rgsc856 mice at E18.5

skeleton

skeleton phenotype ( J:171906 )

N • unlike mice with heterozygous for Col2a1^Dmm, mice do not display more severe articular cartilage degeneration compared to age matched controls

short humerus ( J:133634 )

• most heterozygous mutant mice exhibit forelimb rhizomelia, or shortening of the humerus

short radius ( J:133634 )

• in more severe cases, the radius and ulna are affected, as well as the humerus

short ulna ( J:133634 )

• in more severe cases, the radius and ulna are affected, as well as the humerus

short femur ( J:171906 )

vertebral body hypoplasia ( J:171906 )

• slightly hypoplastic

abnormal chondrocyte morphology ( J:171906 )

• in proliferating chondrocytes the rough ER is expanded

abnormal epiphyseal plate morphology ( J:171906 )

• columnar alignment of proliferating chondrocytes is disordered with reduced extracellular matrix spaces

abnormal long bone epiphyseal plate proliferative zone ( J:171906 )

• collagen fibers in the proliferating zone of the femur seem to be slightly less dense

abnormal chondrocyte physiology ( J:171906 )

• expression analysis indicates an increase in ER stress in rib cartilage at E18.5

growth/size/body

decreased fetal size ( J:171906 )

• mildly but significantly smaller than wild-type controls at E18.5

limbs/digits/tail

abnormal forelimb morphology ( J:133634 )

short humerus ( J:133634 )

• most heterozygous mutant mice exhibit forelimb rhizomelia, or shortening of the humerus

short radius ( J:133634 )

• in more severe cases, the radius and ulna are affected, as well as the humerus

short ulna ( J:133634 )

• in more severe cases, the radius and ulna are affected, as well as the humerus

abnormal hindlimb morphology ( J:133634 )

• in severe cases, the hindlimbs are shortened, as well as the forelimbs

short femur ( J:171906 )

short limbs ( J:133634 )

• in severe cases, all four limbs are shortened

micromelia ( J:171906 )

Genotype
MGI:3800693

ht15

• Allelic Composition: Col2a1^Rgsc413/Col2a1⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

skeleton

abnormal long bone epiphyseal plate proliferative zone ( J:260538 )

• slightly reduced

• expanded rough ER in chondrocytes of the proliferating zone

disorganized long bone epiphyseal plate ( J:260538 )

• disorganized columnar alignment with reduced extracellular matrix spaces

limbs/digits/tail

short forelimb ( J:133634 )

• mice heterozygous for this mutation have short forelimbs

Genotype
MGI:3045418

cx16

• Allelic Composition: Col2a1^tm1(SOX9)Crm/Col2a1⁺; Sox9^tm1Crm/Sox9⁺
• Genetic Background: involves: 129S4/SvJae

mortality/aging

neonatal lethality, incomplete penetrance ( J:90567 )

• 70% die immediately after birth

growth/size/body

decreased body size ( J:90567 )

• 30% of heterozygotes are viable and fertile but very small by 14 days of age

skeleton

abnormal skeleton development ( J:90567 )

• mild hypoplasia of skeletal elements but normal palate and no distortions in long bones, scapula, pelvis, or rib cage

Genotype
MGI:4830264

cx17

• Allelic Composition: Bmpr1a^tm1Bhr/Bmpr1a⁺; Col2a1^tm1.1Ksec/Col2a1⁺
• Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

embryo

abnormal neural tube morphology ( J:163739 )

• neural tube deformities are seen in 2 of 15 mice

limbs/digits/tail

abnormal tail morphology ( J:163739 )

• tail deformities are seen in 2 of 15 mice

vision/eye

enophthalmos ( J:163739 )

• seen in 1 of 15 mice

nervous system

abnormal neural tube morphology ( J:163739 )

• neural tube deformities are seen in 2 of 15 mice

Genotype
MGI:4830267

cx18

• Allelic Composition: Col2a1^tm1.1Ksec/Col2a1⁺; Nodal^tm1Rob/Nodal⁺
• Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6

growth/size/body

abnormal head morphology ( J:163739 )

• the frequency of head abnormalities is not significantly different from Col2a1^tm1.1Ksec single heterozygotes

Genotype
MGI:3699109

cx19

• Allelic Composition: Col2a1^tm1Prc/Col2a1⁺; Col9a1^tm1Jae/Col9a1^tm1Jae
• Genetic Background: involves: 129/Sv * 129S2/SvPas

immune system

osteoarthritis ( J:117910 )

• develop osteoarthritis-like degenerative changes in knee joints to similar extent as in single Col9a1 homozygotes; show no difference in the onset of osteoarthritis between the double mutants and the single Col9a1 homozygotes

skeleton

osteoarthritis ( J:117910 )

• develop osteoarthritis-like degenerative changes in knee joints to similar extent as in single Col9a1 homozygotes; show no difference in the onset of osteoarthritis between the double mutants and the single Col9a1 homozygotes