All Phenotypes Col2a1<tm1.1Ksec> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col2a1^tm1.1Ksec/Col2a1^tm1.1Ksec	involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6	MGI:4830261
hm2	Col2a1^tm1.1Ksec/Col2a1^tm1.1Ksec	involves: 129X1/SvJ * C57BL/6	MGI:4830259
ht3	Col2a1^tm1.1Ksec/Col2a1⁺	involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6	MGI:4830262
ht4	Col2a1^tm1.1Ksec/Col2a1⁺	involves: 129X1/SvJ * C57BL/6	MGI:4830260
cx5	Col2a1^tm1.1Ksec/Col2a1^tm1.1Ksec Nodal^tm1Rob/Nodal⁺	involves: 129S/SvEv * 129X1/SvJ * C57BL/6	MGI:4830266
cx6	Col2a1^tm1.1Ksec/Col2a1⁺ Nodal^tm1Rob/Nodal⁺	involves: 129S/SvEv * 129X1/SvJ * C57BL/6	MGI:4830267
cx7	Bmpr1a^tm1Bhr/Bmpr1a⁺ Col2a1^tm1.1Ksec/Col2a1^tm1.1Ksec	involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6	MGI:4830263
cx8	Bmpr1a^tm1Bhr/Bmpr1a⁺ Col2a1^tm1.1Ksec/Col2a1⁺	involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6	MGI:4830264

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1^tm1.1Ksec mutation (0 available); any Col2a1 mutation (68 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

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

craniofacial

short mandible ( J:163739 )

• at P0

premaxilla hypoplasia ( J:163739 )

• at P0

maxilla hypoplasia ( J:163739 )

• hypoplastic maxilla at P0

retrognathia ( J:163739 )

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

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 diencephalon morphology ( J:163739 )

• at E13.5

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

premaxilla hypoplasia ( J:163739 )

• at P0

maxilla hypoplasia ( J:163739 )

• hypoplastic maxilla at P0

retrognathia ( J:163739 )

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1^tm1.1Ksec mutation (0 available); any Col2a1 mutation (68 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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1^tm1.1Ksec mutation (0 available); any Col2a1 mutation (68 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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1^tm1.1Ksec mutation (0 available); any Col2a1 mutation (68 available)
Nodal^tm1Rob mutation (1 available); any Nodal mutation (41 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 Col2a1^tm1.1Ksec single homozygotes

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

Find Mice

♀	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 Col2a1^tm1.1Ksec single heterozygotes

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1a^tm1Bhr mutation (1 available); any Bmpr1a mutation (89 available)
Col2a1^tm1.1Ksec mutation (0 available); any Col2a1 mutation (68 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

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

Find Mice

♀	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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