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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Skitm1Cco
targeted mutation 1, Clemencia Colmenares
MGI:2177555
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Skitm1Cco/Skitm1Cco involves: 129P2/OlaHsd * Black Swiss MGI:2653471
hm2
Skitm1Cco/Skitm1Cco involves: 129P2/OlaHsd * C57BL/6 MGI:2653470
ht3
Skitm1Cco/Ski+ involves: 129P2/OlaHsd * Black Swiss MGI:2653478
ht4
Skitm1Cco/Ski+ involves: 129P2/OlaHsd * C57BL/6 MGI:2653477
cx5
Gli3Xt-J/Gli3Xt-J
Skitm1Cco/Ski+
involves: C3H * C57BL/6 MGI:2653485


Genotype
MGI:2653471
hm1
Allelic
Composition
Skitm1Cco/Skitm1Cco
Genetic
Background
involves: 129P2/OlaHsd * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Skitm1Cco mutation (4 available); any Ski mutation (65 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes dead at birth
• E18.5 pups born live by cesarean died shortly after birth

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

cellular
• increased rate of proliferation for MEF in culture

craniofacial
• basioccipital bones are small and malformed
• basisphenoid is small and malformed
• loss of frontal bones
• loss of interparietal bones
• loss of parietal bones
• presphenoid is always absent or abnormal
• abnormal square jaw
• mandibular bone is thick
• mandibular bone is short
• facial flattening
• frontonasal clefting found in 15% of pups and E18.5 embryos

embryo
• mesenchyme adjacent to neural tube was somewhat disorganized
• excessive apoptosis in craniofacial mesenchyme at E9.5 but not E10.5
• 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
• facial flattening
• frontonasal clefting found in 15% of pups and E18.5 embryos
• excessive apoptosis in craniofacial mesenchyme at E9.5 but not E10.5
• E18.5 pups delivered by cesarean were 10% smaller than normal

limbs/digits/tail
• vestigial hexadactyly

muscle
• increased space between muscle fibers
• fibers were shorter and somewhat disorganized
• reduced diameter of muscle fibers
• on a Swiss Black background, 15% extremely emaciated and 20% somewhat skinny

skeleton
• basioccipital bones are small and malformed
• basisphenoid is small and malformed
• loss of frontal bones
• loss of interparietal bones
• loss of parietal bones
• presphenoid is always absent or abnormal
• abnormal square jaw
• mandibular bone is thick
• mandibular bone is short
• abnormal curvature of the back, head and neck
• first three cervical vertebrae affected
• homeotic transformations unless facial clefting is present

vision/eye
• homozygotes are born with their eyes open

nervous system
• 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
• ventral midline fusion of the forebrain
• malformed olfactory bulb
• exposed brain mass normally sheared off in normal birth




Genotype
MGI:2653470
hm2
Allelic
Composition
Skitm1Cco/Skitm1Cco
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Skitm1Cco mutation (4 available); any Ski mutation (65 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• 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
• 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
• 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
• 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




Genotype
MGI:2653478
ht3
Allelic
Composition
Skitm1Cco/Ski+
Genetic
Background
involves: 129P2/OlaHsd * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Skitm1Cco mutation (4 available); any Ski mutation (65 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• frontonasal clefting occasionally seen

nervous system
• occasional exencephally seen

embryo

growth/size/body
• frontonasal clefting occasionally seen




Genotype
MGI:2653477
ht4
Allelic
Composition
Skitm1Cco/Ski+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Skitm1Cco mutation (4 available); any Ski mutation (65 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• 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
• the most frequent tumors to develop were malignant lymphomas

cellular
• 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
• 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




Genotype
MGI:2653485
cx5
Allelic
Composition
Gli3Xt-J/Gli3Xt-J
Skitm1Cco/Ski+
Genetic
Background
involves: C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli3Xt-J mutation (3 available); any Gli3 mutation (80 available)
Skitm1Cco mutation (4 available); any Ski mutation (65 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• 3 or more extra digits are seen

skeleton





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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory