All Phenotypes Ski<tm1Cco> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ski^tm1Cco/Ski^tm1Cco	involves: 129P2/OlaHsd * Black Swiss	MGI:2653471
hm2	Ski^tm1Cco/Ski^tm1Cco	involves: 129P2/OlaHsd * C57BL/6	MGI:2653470
ht3	Ski^tm1Cco/Ski⁺	involves: 129P2/OlaHsd * Black Swiss	MGI:2653478
ht4	Ski^tm1Cco/Ski⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:2653477
cx5	Gli3^Xt-J/Gli3^Xt-J Ski^tm1Cco/Ski⁺	involves: C3H * C57BL/6	MGI:2653485

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

mortality/aging

perinatal lethality, complete penetrance ( J:42573 )

• homozygotes dead at birth

• E18.5 pups born live by cesarean died shortly after birth

lethality throughout fetal growth and development, incomplete penetrance ( J:42573 )

• moderate

• occurs between E9.5 and E14.5

cardiovascular system

hemorrhage ( J:42573 )

• in E18.5 embryos delivered by cesarean, severe hemorrhage occurs from exposed brain mass

cellular

increased fibroblast proliferation ( J:73349 )

• increased rate of proliferation for MEF in culture

craniofacial

abnormal neurocranium morphology ( J:42573 )

small basioccipital bone ( J:42573 )

• basioccipital bones are small and malformed

small basisphenoid bone ( J:42573 )

• basisphenoid is small and malformed

absent frontal bone ( J:42573 )

• loss of frontal bones

absent interparietal bone ( J:42573 )

• loss of interparietal bones

absent parietal bone ( J:42573 )

• loss of parietal bones

abnormal presphenoid bone morphology ( J:42573 )

• presphenoid is always absent or abnormal

abnormal jaw morphology ( J:42573 )

• abnormal square jaw

mandibular hyperostosis ( J:42573 )

• mandibular bone is thick

short mandible ( J:42573 )

• mandibular bone is short

flat face ( J:42573 )

• facial flattening

midline facial cleft ( J:42573 )

• frontonasal clefting found in 15% of pups and E18.5 embryos

embryo

abnormal paraxial mesoderm morphology ( J:42573 )

• mesenchyme adjacent to neural tube was somewhat disorganized

abnormal ectomesenchyme morphology ( J:42573 )

• excessive apoptosis in craniofacial mesenchyme at E9.5 but not E10.5

open neural tube ( J:42573 )

• defect at the level of the midbrain-forebrain boundary and extending forward and backward or in one or the other direction

• occurs in about 85% of embryos

• excessive apoptosis at E9.5 but not at E10.5

• no caudal neural tube defects, spina bifida or kinky tails

growth/size/body

flat face ( J:42573 )

• facial flattening

midline facial cleft ( J:42573 )

• frontonasal clefting found in 15% of pups and E18.5 embryos

abnormal ectomesenchyme morphology ( J:42573 )

• excessive apoptosis in craniofacial mesenchyme at E9.5 but not E10.5

decreased fetal size ( J:42573 )

• E18.5 pups delivered by cesarean were 10% smaller than normal

limbs/digits/tail

polydactyly ( J:75396 )

• vestigial hexadactyly

muscle

abnormal skeletal muscle morphology ( J:42573 )

• increased space between muscle fibers

abnormal skeletal muscle fiber morphology ( J:42573 )

• fibers were shorter and somewhat disorganized

decreased skeletal muscle fiber diameter ( J:42573 )

• reduced diameter of muscle fibers

decreased skeletal muscle mass ( J:42573 )

muscle hypoplasia ( J:42573 )

• on a Swiss Black background, 15% extremely emaciated and 20% somewhat skinny

skeleton

abnormal neurocranium morphology ( J:42573 )

small basioccipital bone ( J:42573 )

• basioccipital bones are small and malformed

small basisphenoid bone ( J:42573 )

• basisphenoid is small and malformed

absent frontal bone ( J:42573 )

• loss of frontal bones

absent interparietal bone ( J:42573 )

• loss of interparietal bones

absent parietal bone ( J:42573 )

• loss of parietal bones

abnormal presphenoid bone morphology ( J:42573 )

• presphenoid is always absent or abnormal

abnormal jaw morphology ( J:42573 )

• abnormal square jaw

mandibular hyperostosis ( J:42573 )

• mandibular bone is thick

short mandible ( J:42573 )

• mandibular bone is short

abnormal spine curvature ( J:42573 )

• abnormal curvature of the back, head and neck

abnormal cervical vertebrae morphology ( J:42573 )

• first three cervical vertebrae affected

abnormal cervical atlas morphology ( J:42573 )

abnormal cervical axis morphology ( J:42573 )

vertebral transformation ( J:42573 )

• homeotic transformations unless facial clefting is present

abnormal skeleton development ( J:75396 )

vision/eye

eyelids open at birth ( J:42573 )

• homozygotes are born with their eyes open

nervous system

open neural tube ( J:42573 )

• defect at the level of the midbrain-forebrain boundary and extending forward and backward or in one or the other direction

• occurs in about 85% of embryos

• excessive apoptosis at E9.5 but not at E10.5

• no caudal neural tube defects, spina bifida or kinky tails

abnormal forebrain morphology ( J:75396 )

• ventral midline fusion of the forebrain

abnormal olfactory bulb morphology ( J:75396 )

• malformed olfactory bulb

exencephaly ( J:42573 )

• exposed brain mass normally sheared off in normal birth

Allelic Composition	Ski^tm1Cco/Ski^tm1Cco
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ski^tm1Cco mutation (4 available); any Ski mutation (66 available)

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:42573 )

• Background Sensitivity: while the phenotype expressed on this background is essentially the same as that on a 129P2 and Black Swiss background, embryonic lethality was delayed to between E14.5 and E18.5

craniofacial

midline facial cleft ( J:75396 )

• While the phenotype expressed on this background is essentially the same as that on a 129P2 and Black Swiss background, as backcrossing to C57BL/6 continues the frequency of facial clefts increases

muscle

muscle hypoplasia ( J:42573 )

• While the phenotype expressed on this background is essentially the same as that on a 129P2 and Black Swiss background, on a C57BL/6 background 50-60% of homozygous mice were obviously skinny with flaccid limbs

nervous system

exencephaly ( J:75396 )

• While the phenotype expressed on this background is essentially the same as that on a 129P2 and Black Swiss background, continued backcrossing to C57BL/6 reduces frequency of exencephaly

growth/size/body

midline facial cleft ( J:75396 )

Allelic Composition	Ski^tm1Cco/Ski⁺
Genetic Background	involves: 129P2/OlaHsd * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ski^tm1Cco mutation (4 available); any Ski mutation (66 available)

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

craniofacial

midline facial cleft ( J:42573 )

• frontonasal clefting occasionally seen

nervous system

abnormal neural tube morphology ( J:42573 )

exencephaly ( J:42573 )

• occasional exencephally seen

embryo

abnormal neural tube morphology ( J:42573 )

growth/size/body

midline facial cleft ( J:42573 )

• frontonasal clefting occasionally seen

Allelic Composition	Ski^tm1Cco/Ski⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ski^tm1Cco mutation (4 available); any Ski mutation (66 available)

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

neoplasm

increased incidence of tumors by chemical induction ( J:73349 )

• n addition to the phenotype observed for heterozygotes on a 129P2 and Black Swiss background, heterozygotes on this background display increased succeptibility for tumors when injected IP with 9,10-dimethyl-1,2-benzanthracene

increased lymphoma incidence ( J:73349 )

• the most frequent tumors to develop were malignant lymphomas

cellular

increased fibroblast proliferation ( J:73349 )

• In addition to the phenotype observed for heterozygotes on a 129P2 and Black Swiss background, heterozygotes on this background display increased rate of proliferation for MEF in culture

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:73349 )

Allelic Composition	Gli3^Xt-J/Gli3^Xt-J Ski^tm1Cco/Ski⁺
Genetic Background	involves: C3H * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli3^Xt-J mutation (3 available); any Gli3 mutation (81 available)
Ski^tm1Cco mutation (4 available); any Ski mutation (66 available)

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

limbs/digits/tail

polydactyly ( J:80205 )

• 3 or more extra digits are seen

skeleton

abnormal skeleton development ( J:80205 )

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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