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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Col2a1tm1.1Ksec
targeted mutation 1.1, Kathryn S E Cheah
MGI:4830258
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Col2a1tm1.1Ksec/Col2a1tm1.1Ksec involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 MGI:4830261
hm2
 		Col2a1tm1.1Ksec/Col2a1tm1.1Ksec involves: 129X1/SvJ * C57BL/6 MGI:4830259
ht3
 		Col2a1tm1.1Ksec/Col2a1+ involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 MGI:4830262
ht4
 		Col2a1tm1.1Ksec/Col2a1+ involves: 129X1/SvJ * C57BL/6 MGI:4830260
cx5
 		Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
Nodaltm1Rob/Nodal+ 		involves: 129S/SvEv * 129X1/SvJ * C57BL/6 MGI:4830266
cx6
 		Col2a1tm1.1Ksec/Col2a1+
Nodaltm1Rob/Nodal+ 		involves: 129S/SvEv * 129X1/SvJ * C57BL/6 MGI:4830267
cx7
 		Bmpr1atm1Bhr/Bmpr1a+
Col2a1tm1.1Ksec/Col2a1tm1.1Ksec 		involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 MGI:4830263
cx8
 		Bmpr1atm1Bhr/Bmpr1a+
Col2a1tm1.1Ksec/Col2a1+ 		involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 MGI:4830264


Genotype
MGI:4830261
hm1
Allelic
Composition		 Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
Genetic
Background		 involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1tm1.1Ksec mutation (0 available); any Col2a1 mutation (69 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
prenatal lethality, incomplete penetrance ( J:163739 )
• underrepresented at birth and in the embryonic stages

craniofacial
midface hypoplasia ( J:163739 )
• midface hypoplasia is seen in 2 of 5 mice

vision/eye
cyclopia ( J:163739 )
• seen in 2 of 5 mice

embryo
abnormal neural tube morphology ( J:163739 )
• neural tube deformities are seen in 1 of 5 mice

limbs/digits/tail
abnormal tail morphology ( J:163739 )
• tail deformities are seen in 1 of 5 mice

nervous system
abnormal neural tube morphology ( J:163739 )
• neural tube deformities are seen in 1 of 5 mice

growth/size/body
midface hypoplasia ( J:163739 )
• midface hypoplasia is seen in 2 of 5 mice
microcephaly ( J:163739 )
• seen in 2 of 5 mice




Genotype
MGI:4830259
hm2
Allelic
Composition		 Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
Genetic
Background		 involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1tm1.1Ksec mutation (0 available); any Col2a1 mutation (69 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
short mandible ( J:163739 )
• at P0
maxilla hypoplasia ( J:163739 )
• hypoplastic maxilla at P0
nasal bone hypoplasia ( J:163739 )
• hypoplastic nasal bones at P0
absent nasal cavity ( J:163739 )
• absent at E13.5
absent nasal septum ( J:163739 )
• at E13.5
abnormal snout morphology ( J:163739 )
• foreshortened and tapered snout
proboscis ( J:163739 )
• seen in extreme cases

nervous system
abnormal brain development ( J:163739 )
• at E9.5 development of the prosencephalon is retarded particularly the process of optic evagination
holoprosencephaly ( J:163739 )
• at E13.5 a single unpartitioned prosencephalic vesicle is present
abnormal forebrain morphology ( J:163739 )
• at E13.5 - E16.5 the transverse dimension of the forebrain is narrower
abnormal cranial ganglia morphology ( J:163739 )
• ectopic location of the cranial nerve ganglia at E13.5

vision/eye
abnormal eye development ( J:163739 )
• ectopic location of the eye primordium at E13.5
abnormal optic vesicle formation ( J:163739 )
• at E9.5 the process of optic evagination is retarded
cyclopia ( J:163739 )
• seen in extreme cases
enophthalmos ( J:163739 )
• in 4 of 11 newborns

embryo
abnormal mesendoderm development ( J:163739 )
• expression analysis indicates defects in the prechordal anterior mesendoderm

respiratory system
nasal bone hypoplasia ( J:163739 )
• hypoplastic nasal bones at P0
absent nasal cavity ( J:163739 )
• absent at E13.5
absent nasal septum ( J:163739 )
• at E13.5

skeleton
short mandible ( J:163739 )
• at P0
maxilla hypoplasia ( J:163739 )
• hypoplastic maxilla at P0
nasal bone hypoplasia ( J:163739 )
• hypoplastic nasal bones at P0

growth/size/body
abnormal head morphology ( J:163739 )
• at E13.5 - E16.5 and at P1 6 of 10 and 4 of 11 mice, respectively, display head defects
• at E13.5 - E16.5 the size of the frontal region of the head is reduced
nasal bone hypoplasia ( J:163739 )
• hypoplastic nasal bones at P0
absent nasal cavity ( J:163739 )
• absent at E13.5
absent nasal septum ( J:163739 )
• at E13.5
abnormal snout morphology ( J:163739 )
• foreshortened and tapered snout
short snout ( J:163739 )
proboscis ( J:163739 )
• seen in extreme cases
microcephaly ( J:163739 )
• detected at E9.5




Genotype
MGI:4830262
ht3
Allelic
Composition		 Col2a1tm1.1Ksec/Col2a1+
Genetic
Background		 involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1tm1.1Ksec mutation (0 available); any Col2a1 mutation (69 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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:4830260
ht4
Allelic
Composition		 Col2a1tm1.1Ksec/Col2a1+
Genetic
Background		 involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1tm1.1Ksec mutation (0 available); any Col2a1 mutation (69 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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:4830266
cx5
Allelic
Composition		 Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
Nodaltm1Rob/Nodal+
Genetic
Background		 involves: 129S/SvEv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1tm1.1Ksec mutation (0 available); any Col2a1 mutation (69 available)
Nodaltm1Rob mutation (2 available); any Nodal mutation (42 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
abnormal head morphology ( J:163739 )
• the frequency of head abnormalities is not significantly different from Col2a1tm1.1Ksec single homozygotes




Genotype
MGI:4830267
cx6
Allelic
Composition		 Col2a1tm1.1Ksec/Col2a1+
Nodaltm1Rob/Nodal+
Genetic
Background		 involves: 129S/SvEv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1tm1.1Ksec mutation (0 available); any Col2a1 mutation (69 available)
Nodaltm1Rob mutation (2 available); any Nodal mutation (42 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
abnormal head morphology ( J:163739 )
• the frequency of head abnormalities is not significantly different from Col2a1tm1.1Ksec single heterozygotes




Genotype
MGI:4830263
cx7
Allelic
Composition		 Bmpr1atm1Bhr/Bmpr1a+
Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
Genetic
Background		 involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (90 available)
Col2a1tm1.1Ksec mutation (0 available); any Col2a1 mutation (69 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
prenatal lethality, incomplete penetrance ( J:163739 )
• underrepresented at birth and in the embryonic stages

craniofacial
midface hypoplasia ( J:163739 )
• midface hypoplasia is seen in 1 of 1 mice

vision/eye
cyclopia ( J:163739 )
• seen in 1 of 1 mice

growth/size/body
midface hypoplasia ( J:163739 )
• midface hypoplasia is seen in 1 of 1 mice
microcephaly ( J:163739 )
• seen in 1 of 1 mice




Genotype
MGI:4830264
cx8
Allelic
Composition		 Bmpr1atm1Bhr/Bmpr1a+
Col2a1tm1.1Ksec/Col2a1+
Genetic
Background		 involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (90 available)
Col2a1tm1.1Ksec mutation (0 available); any Col2a1 mutation (69 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory