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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gas1tm2Fan
targeted mutation 1, Chen-Ming Fan
MGI:3711070
Summary 13 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gas1tm2Fan/Gas1tm2Fan involves: 129 * C57BL/6J MGI:3711876
hm2
Gas1tm2Fan/Gas1tm2Fan involves: C57BL/6J MGI:3711882
cx3
Boctm1Aok/Boc+
Gas1tm2Fan/Gas1tm2Fan
involves: 129 * C57BL/6 * CD-1 MGI:7287691
cx4
Boctm1Aok/Boctm1Aok
Gas1tm2Fan/Gas1tm2Fan
involves: 129 * C57BL/6 * CD-1 MGI:7287692
cx5
Boctm1Aok/Boc+
Gas1tm2Fan/Gas1+
involves: 129 * C57BL/6 * CD-1 MGI:7287690
cx6
Cdontm2Rsk/Cdon+
Gas1tm2Fan/Gas1tm2Fan
involves: 129 * C57BL/6J MGI:3711887
cx7
Cdontm2Rsk/Cdontm2Rsk
Gas1tm2Fan/Gas1+
involves: 129 * C57BL/6J MGI:3711888
cx8
Cdontm2Rsk/Cdontm2Rsk
Gas1tm2Fan/Gas1tm2Fan
involves: 129 * C57BL/6J MGI:3711883
cx9
Gas1tm2Fan/Gas1tm2Fan
Shhtm1Chg/Shh+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3711884
cx10
Gas1tm2Fan/Gas1+
Shhtm1Chg/Shh+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3711885
cx11
Gas1tm2Fan/Gas1tm2Fan
Shhtm1Chg/Shh+
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3711877
cx12
Gas1tm2Fan/Gas1tm2Fan
Shhtm1Chg/Shhtm1Chg
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3711878
cx13
Gas1tm2Fan/Gas1tm2Fan
Gli3Xt-J/Gli3Xt-J
involves: 129/Sv * C3H/HeJ * C57BL/6J MGI:3711879


Genotype
MGI:3711876
hm1
Allelic
Composition
Gas1tm2Fan/Gas1tm2Fan
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• digit 2 is disproportionately smaller
• 5% of forelimbs and 41% hindlimbs have 4.5 digits, 42% of hindlimbs are missing digit 2

nervous system
• narrow and triangular in shape instead of the normal wedge shape

embryo
• narrow and triangular in shape instead of the normal wedge shape




Genotype
MGI:3711882
hm2
Allelic
Composition
Gas1tm2Fan/Gas1tm2Fan
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• digit 2 or 3 is complete absent form hindlimbs
• forelimb digits 2 and 3 are fused

skeleton
• reduced parietal bone at E18.5
• truncated maxilla at E18.5
• lack of ossification

nervous system
• floor plate cells adopt more dorsal fates as shown by marker staining
• vp3 interneuron progenitors are reduced while pMN motorneuron progenitors are not affected

hearing/vestibular/ear
• disrupted tympanic bone at E18.5

craniofacial
• reduced parietal bone at E18.5
• truncated maxilla at E18.5
• at E10.5, medial nasal processes are partially fused

embryo
• floor plate cells adopt more dorsal fates as shown by marker staining




Genotype
MGI:7287691
cx3
Allelic
Composition
Boctm1Aok/Boc+
Gas1tm2Fan/Gas1tm2Fan
Genetic
Background
involves: 129 * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Boctm1Aok mutation (2 available); any Boc mutation (61 available)
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at E14.5, mice exhibit microform holoprosencephaly

craniofacial
• at E14.5, mice show a higher cell packing index (CPI, a measure of cell density) within the palatal shelf mesenchymal component than double heterozygous controls
• at E14.5, mice also show a higher proliferation index per unit area (PIPUA) within palatal shelf mesenchyme than double heterozygous controls, but to a lesser extent than in Boctm1Aok homozygotes (which have the lowest CPI and highest PIPUA value amongst genotypes)
• at E14.5, TUNEL assays showed lower levels of apoptosis within anterior, medial and posterior sections of the palatal shelves than in double heterozygous controls
• at E14.5, mice exhibit cleft palate with incomplete penetrance

digestive/alimentary system
• at E14.5, mice show a higher cell packing index (CPI, a measure of cell density) within the palatal shelf mesenchymal component than double heterozygous controls
• at E14.5, mice also show a higher proliferation index per unit area (PIPUA) within palatal shelf mesenchyme than double heterozygous controls, but to a lesser extent than in Boctm1Aok homozygotes (which have the lowest CPI and highest PIPUA value amongst genotypes)
• at E14.5, TUNEL assays showed lower levels of apoptosis within anterior, medial and posterior sections of the palatal shelves than in double heterozygous controls
• at E14.5, mice exhibit cleft palate with incomplete penetrance

growth/size/body
• at E14.5, mice show a higher cell packing index (CPI, a measure of cell density) within the palatal shelf mesenchymal component than double heterozygous controls
• at E14.5, mice also show a higher proliferation index per unit area (PIPUA) within palatal shelf mesenchyme than double heterozygous controls, but to a lesser extent than in Boctm1Aok homozygotes (which have the lowest CPI and highest PIPUA value amongst genotypes)
• at E14.5, TUNEL assays showed lower levels of apoptosis within anterior, medial and posterior sections of the palatal shelves than in double heterozygous controls
• at E14.5, mice exhibit cleft palate with incomplete penetrance




Genotype
MGI:7287692
cx4
Allelic
Composition
Boctm1Aok/Boctm1Aok
Gas1tm2Fan/Gas1tm2Fan
Genetic
Background
involves: 129 * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Boctm1Aok mutation (2 available); any Boc mutation (61 available)
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• at E14.5, mice show a higher proliferation index per unit area (PIPUA) within palatal shelf mesenchyme than double heterozygous controls, but to a lesser extent than in Boctm1Aok homozygotes (which have the lowest cell packing index (CPI) value and highest PIPUA value amongst genotypes)
• however, the CPI value is not statistically different from that in double heterozygous controls
• at E12.5, expression levels of Shh and its target genes Ptch1 and Gli1 are reduced, indicating reduced Shh activity in the palatal shelves during palate development
• at E14.5, TUNEL assays showed lower levels of apoptosis within anterior, medial and posterior sections of the palatal shelves than in double heterozygous controls
• despite increased mesenchymal proliferation and reduced epithelial cell death, palatal shelf size is similar to that in double heterozygous controls
• at E14.5, mice exhibit a fully penetrant cleft palate
• at E14.5, mice show failure of palatal shelf (PS) elevation above the tongue
• at E14.5, a midline cleft is noted within the posterior third of the tongue in the pharyngeal region
• at E14.5, the vomeronasal organ is abnormally positioned

digestive/alimentary system
• at E14.5, mice show a higher proliferation index per unit area (PIPUA) within palatal shelf mesenchyme than double heterozygous controls, but to a lesser extent than in Boctm1Aok homozygotes (which have the lowest cell packing index (CPI) value and highest PIPUA value amongst genotypes)
• however, the CPI value is not statistically different from that in double heterozygous controls
• at E12.5, expression levels of Shh and its target genes Ptch1 and Gli1 are reduced, indicating reduced Shh activity in the palatal shelves during palate development
• at E14.5, TUNEL assays showed lower levels of apoptosis within anterior, medial and posterior sections of the palatal shelves than in double heterozygous controls
• despite increased mesenchymal proliferation and reduced epithelial cell death, palatal shelf size is similar to that in double heterozygous controls
• at E14.5, mice exhibit a fully penetrant cleft palate
• at E14.5, mice show failure of palatal shelf (PS) elevation above the tongue
• at E14.5, a midline cleft is noted within the posterior third of the tongue in the pharyngeal region

growth/size/body
• at E14.5, mice show a higher proliferation index per unit area (PIPUA) within palatal shelf mesenchyme than double heterozygous controls, but to a lesser extent than in Boctm1Aok homozygotes (which have the lowest cell packing index (CPI) value and highest PIPUA value amongst genotypes)
• however, the CPI value is not statistically different from that in double heterozygous controls
• at E12.5, expression levels of Shh and its target genes Ptch1 and Gli1 are reduced, indicating reduced Shh activity in the palatal shelves during palate development
• at E14.5, TUNEL assays showed lower levels of apoptosis within anterior, medial and posterior sections of the palatal shelves than in double heterozygous controls
• despite increased mesenchymal proliferation and reduced epithelial cell death, palatal shelf size is similar to that in double heterozygous controls
• at E14.5, mice exhibit a fully penetrant cleft palate
• at E14.5, mice show failure of palatal shelf (PS) elevation above the tongue
• at E14.5, a midline cleft is noted within the posterior third of the tongue in the pharyngeal region
• at E14.5, the vomeronasal organ is abnormally positioned

nervous system
• at E14.5, the vomeronasal organ is abnormally positioned

respiratory system
• at E14.5, the vomeronasal organ is abnormally positioned




Genotype
MGI:7287690
cx5
Allelic
Composition
Boctm1Aok/Boc+
Gas1tm2Fan/Gas1+
Genetic
Background
involves: 129 * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Boctm1Aok mutation (2 available); any Boc mutation (61 available)
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
N
• mice exhibit a craniofacial midline comparable to that of wild type mice, with normal palatal development at E14.5 and normal Shh activity in the palatal shelves at E12.5




Genotype
MGI:3711887
cx6
Allelic
Composition
Cdontm2Rsk/Cdon+
Gas1tm2Fan/Gas1tm2Fan
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdontm2Rsk mutation (1 available); any Cdon mutation (66 available)
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• digit 2 or 3 is complete absent form hindlimbs
• forelimb digits 2 and 3 are fused




Genotype
MGI:3711888
cx7
Allelic
Composition
Cdontm2Rsk/Cdontm2Rsk
Gas1tm2Fan/Gas1+
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdontm2Rsk mutation (1 available); any Cdon mutation (66 available)
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• digit 2 or 3 is complete absent form hindlimbs
• forelimb digits 2 and 3 are fused

skeleton
• lack of ossification




Genotype
MGI:3711883
cx8
Allelic
Composition
Cdontm2Rsk/Cdontm2Rsk
Gas1tm2Fan/Gas1tm2Fan
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdontm2Rsk mutation (1 available); any Cdon mutation (66 available)
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• limb defects resemble those seen in Gas1tm2Fan homozygotes

craniofacial
• more significant than defects seen in Gas1tm2Fan/Gas1tm2Fan Shhtm1Chg/Shh+homozygotes
• medial facial structures are completely lacking
• nasal process defects

nervous system

skeleton
• ventral medial components are absent
• lack of ossification

respiratory system
• nasal process defects

growth/size/body
• medial facial structures are completely lacking
• nasal process defects




Genotype
MGI:3711884
cx9
Allelic
Composition
Gas1tm2Fan/Gas1tm2Fan
Shhtm1Chg/Shh+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
Shhtm1Chg mutation (2 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• digit 2 or 3 is absent from the forelimbs
• however, long bones are normal

craniofacial
• cranio-skeletal defects are more significant than those seen in Gas1tm2Fan homozygotes
• profound truncation
• at E18.5, complete fusion of medial nasal processes

nervous system
• floor plate cells adopt more dorsal fates, as shown by marker staining, than Gas1tm2Fan homozygotes
• axonal projections are misrouted through the Isl1/2+ motor column
• vp3 interneuron progenitors are reduced further compared to Gas1tm2Fan homozygotes
• pMN motorneuron progenitors are dramatically reduced although their relative dorsal position to vp3 interneuron progenitors is preserved
• however, pMN specification occurs normally

skeleton
• profound truncation
• partial fusion of intervertebral discs
• reduction in the ossification centers

respiratory system
• at E18.5, complete fusion of medial nasal processes

growth/size/body
• at E18.5, complete fusion of medial nasal processes

embryo
• floor plate cells adopt more dorsal fates, as shown by marker staining, than Gas1tm2Fan homozygotes




Genotype
MGI:3711885
cx10
Allelic
Composition
Gas1tm2Fan/Gas1+
Shhtm1Chg/Shh+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
Shhtm1Chg mutation (2 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• pMN motorneuron progenitor cell numbers are increased




Genotype
MGI:3711877
cx11
Allelic
Composition
Gas1tm2Fan/Gas1tm2Fan
Shhtm1Chg/Shh+
Genetic
Background
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
Shhtm1Chg mutation (2 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• 16% of forelimbs have 4.5 digits, 84% of forelimbs and 100% of hindlimbs are missing digit 2
• no digit forms at the digit 2 position

nervous system
• mild, with a narrowing and fusion of the midline facial structures

respiratory system
• single nostril

craniofacial
• single nostril

growth/size/body
• single nostril




Genotype
MGI:3711878
cx12
Allelic
Composition
Gas1tm2Fan/Gas1tm2Fan
Shhtm1Chg/Shhtm1Chg
Genetic
Background
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
Shhtm1Chg mutation (2 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die after E9.5 and are all dead at E13.5

embryo
• at E9.5, embryos fail to undergo proper turning
• at E9.5, double-kink in the body axis or an L-shaped body axis
• development arrests at E9.5

growth/size/body

cardiovascular system
• at E9.5, hearts are linear or mostly linear

homeostasis/metabolism
• at E9.5, severe cardiac edema




Genotype
MGI:3711879
cx13
Allelic
Composition
Gas1tm2Fan/Gas1tm2Fan
Gli3Xt-J/Gli3Xt-J
Genetic
Background
involves: 129/Sv * C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gas1tm2Fan mutation (0 available); any Gas1 mutation (14 available)
Gli3Xt-J mutation (3 available); any Gli3 mutation (81 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• similar to the phenotype seen in Gli3Xt-J homozygotes





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory