Phenotypes associated with this allele

• Allele Symbol: Gas1^tm2Fan
• Allele Name: targeted mutation 1, Chen-Ming Fan
• Allele ID: MGI:3711070
• Summary: 13 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gas1^tm2Fan/Gas1^tm2Fan	involves: 129 * C57BL/6J	MGI:3711876
hm2	Gas1^tm2Fan/Gas1^tm2Fan	involves: C57BL/6J	MGI:3711882
cx3	Boc^tm1Aok/Boc^+ Gas1^tm2Fan/Gas1^tm2Fan	involves: 129 * C57BL/6 * CD-1	MGI:7287691
cx4	Boc^tm1Aok/Boc^+ Gas1^tm2Fan/Gas1^+	involves: 129 * C57BL/6 * CD-1	MGI:7287690
cx5	Boc^tm1Aok/Boc^tm1Aok Gas1^tm2Fan/Gas1^tm2Fan	involves: 129 * C57BL/6 * CD-1	MGI:7287692
cx6	Cdon^tm2Rsk/Cdon^tm2Rsk Gas1^tm2Fan/Gas1^+	involves: 129 * C57BL/6J	MGI:3711888
cx7	Cdon^tm2Rsk/Cdon^tm2Rsk Gas1^tm2Fan/Gas1^tm2Fan	involves: 129 * C57BL/6J	MGI:3711883
cx8	Cdon^tm2Rsk/Cdon^+ Gas1^tm2Fan/Gas1^tm2Fan	involves: 129 * C57BL/6J	MGI:3711887
cx9	Gas1^tm2Fan/Gas1^+ Shh^tm1Chg/Shh^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3711885
cx10	Gas1^tm2Fan/Gas1^tm2Fan Shh^tm1Chg/Shh^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3711884
cx11	Gas1^tm2Fan/Gas1^tm2Fan Shh^tm1Chg/Shh^+	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3711877
cx12	Gas1^tm2Fan/Gas1^tm2Fan Shh^tm1Chg/Shh^tm1Chg	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3711878
cx13	Gas1^tm2Fan/Gas1^tm2Fan Gli3^Xt-J/Gli3^Xt-J	involves: 129/Sv * C3H/HeJ * C57BL/6J	MGI:3711879

Genotype
MGI:3711876

hm1

• Allelic Composition: Gas1^tm2Fan/Gas1^tm2Fan
• Genetic Background: involves: 129 * C57BL/6J

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

limbs/digits/tail

abnormal digit morphology ( J:121554 )

• digit 2 is disproportionately smaller

oligodactyly ( J:121554 )

• 5% of forelimbs and 41% hindlimbs have 4.5 digits, 42% of hindlimbs are missing digit 2

short limbs ( J:121554 )

nervous system

abnormal floor plate morphology ( J:121554 )

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

embryo

abnormal floor plate morphology ( J:121554 )

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

Genotype
MGI:3711882

hm2

• Allelic Composition: Gas1^tm2Fan/Gas1^tm2Fan
• Genetic Background: involves: C57BL/6J

limbs/digits/tail

hindlimb oligodactyly ( J:121553 )

• digit 2 or 3 is complete absent form hindlimbs

syndactyly ( J:121553 )

• forelimb digits 2 and 3 are fused

skeleton

small parietal bone ( J:121553 )

• reduced parietal bone at E18.5

short maxilla ( J:121553 )

• truncated maxilla at E18.5

abnormal vertebral body morphology ( J:121553 )

• lack of ossification

nervous system

abnormal floor plate morphology ( J:121553 )

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

decreased neuronal precursor cell number ( J:121553 )

• vp3 interneuron progenitors are reduced while pMN motorneuron progenitors are not affected

hearing/vestibular/ear

abnormal tympanic ring morphology ( J:121553 )

• disrupted tympanic bone at E18.5

craniofacial

small parietal bone ( J:121553 )

• reduced parietal bone at E18.5

short maxilla ( J:121553 )

• truncated maxilla at E18.5

abnormal medial nasal prominence morphology ( J:121553 )

• at E10.5, medial nasal processes are partially fused

embryo

abnormal floor plate morphology ( J:121553 )

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

Genotype
MGI:7287691

cx3

• Allelic Composition: Boc^tm1Aok/Boc⁺; Gas1^tm2Fan/Gas1^tm2Fan
• Genetic Background: involves: 129 * C57BL/6 * CD-1

nervous system

holoprosencephaly ( J:310333 )

• at E14.5, mice exhibit microform holoprosencephaly

craniofacial

abnormal palatal mesenchymal cell proliferation ( J:310333 )

• 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 Boc^tm1Aok homozygotes (which have the lowest CPI and highest PIPUA value amongst genotypes)

abnormal secondary palate development ( J:310333 )

• 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

cleft palate ( J:310333 )

• at E14.5, mice exhibit cleft palate with incomplete penetrance

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:310333 )

• 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 Boc^tm1Aok homozygotes (which have the lowest CPI and highest PIPUA value amongst genotypes)

abnormal secondary palate development ( J:310333 )

• 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

cleft palate ( J:310333 )

• at E14.5, mice exhibit cleft palate with incomplete penetrance

growth/size/body

abnormal palatal mesenchymal cell proliferation ( J:310333 )

• 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 Boc^tm1Aok homozygotes (which have the lowest CPI and highest PIPUA value amongst genotypes)

abnormal secondary palate development ( J:310333 )

• 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

cleft palate ( J:310333 )

• at E14.5, mice exhibit cleft palate with incomplete penetrance

Genotype
MGI:7287690

cx4

• Allelic Composition: Boc^tm1Aok/Boc⁺; Gas1^tm2Fan/Gas1⁺
• Genetic Background: involves: 129 * C57BL/6 * CD-1

craniofacial

craniofacial phenotype ( J:310333 )

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:7287692

cx5

• Allelic Composition: Boc^tm1Aok/Boc^tm1Aok; Gas1^tm2Fan/Gas1^tm2Fan
• Genetic Background: involves: 129 * C57BL/6 * CD-1

craniofacial

abnormal palatal mesenchymal cell proliferation ( J:310333 )

• 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 Boc^tm1Aok 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

abnormal secondary palate development ( J:310333 )

• 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

cleft palate ( J:310333 )

• at E14.5, mice exhibit a fully penetrant cleft palate

cleft secondary palate ( J:310333 )

failure of palatal shelf elevation ( J:310333 )

• at E14.5, mice show failure of palatal shelf (PS) elevation above the tongue

bifid tongue ( J:310333 )

• at E14.5, a midline cleft is noted within the posterior third of the tongue in the pharyngeal region

abnormal vomeronasal organ morphology ( J:310333 )

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

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:310333 )

• 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 Boc^tm1Aok 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

abnormal secondary palate development ( J:310333 )

• 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

cleft palate ( J:310333 )

• at E14.5, mice exhibit a fully penetrant cleft palate

cleft secondary palate ( J:310333 )

failure of palatal shelf elevation ( J:310333 )

• at E14.5, mice show failure of palatal shelf (PS) elevation above the tongue

bifid tongue ( J:310333 )

• at E14.5, a midline cleft is noted within the posterior third of the tongue in the pharyngeal region

growth/size/body

abnormal palatal mesenchymal cell proliferation ( J:310333 )

• 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 Boc^tm1Aok 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

abnormal secondary palate development ( J:310333 )

• 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

cleft palate ( J:310333 )

• at E14.5, mice exhibit a fully penetrant cleft palate

cleft secondary palate ( J:310333 )

failure of palatal shelf elevation ( J:310333 )

• at E14.5, mice show failure of palatal shelf (PS) elevation above the tongue

bifid tongue ( J:310333 )

• at E14.5, a midline cleft is noted within the posterior third of the tongue in the pharyngeal region

abnormal vomeronasal organ morphology ( J:310333 )

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

nervous system

abnormal vomeronasal organ morphology ( J:310333 )

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

respiratory system

abnormal vomeronasal organ morphology ( J:310333 )

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

Genotype
MGI:3711888

cx6

• Allelic Composition: Cdon^tm2Rsk/Cdon^tm2Rsk; Gas1^tm2Fan/Gas1⁺
• Genetic Background: involves: 129 * C57BL/6J

limbs/digits/tail

hindlimb oligodactyly ( J:121553 )

• digit 2 or 3 is complete absent form hindlimbs

syndactyly ( J:121553 )

• forelimb digits 2 and 3 are fused

skeleton

abnormal vertebral body morphology ( J:121553 )

• lack of ossification

Genotype
MGI:3711883

cx7

• Allelic Composition: Cdon^tm2Rsk/Cdon^tm2Rsk; Gas1^tm2Fan/Gas1^tm2Fan
• Genetic Background: involves: 129 * C57BL/6J

limbs/digits/tail

abnormal limb morphology ( J:121553 )

• limb defects resemble those seen in Gas1^tm2Fan homozygotes

craniofacial

abnormal craniofacial morphology ( J:121553 )

• more significant than defects seen in Gas1^tm2Fan/Gas1^tm2Fan Shh^tm1Chg/Shh⁺homozygotes

absent mandible ( J:121553 )

absent maxilla ( J:121553 )

abnormal face development ( J:121553 )

• medial facial structures are completely lacking

abnormal nose morphology ( J:121553 )

• nasal process defects

nervous system

holoprosencephaly ( J:121553 )

skeleton

absent mandible ( J:121553 )

absent maxilla ( J:121553 )

abnormal vertebrae morphology ( J:121553 )

• ventral medial components are absent

cervical vertebral fusion ( J:121553 )

abnormal vertebral body morphology ( J:121553 )

• lack of ossification

respiratory system

abnormal nose morphology ( J:121553 )

• nasal process defects

growth/size/body

abnormal face development ( J:121553 )

• medial facial structures are completely lacking

abnormal nose morphology ( J:121553 )

• nasal process defects

Genotype
MGI:3711887

cx8

• Allelic Composition: Cdon^tm2Rsk/Cdon⁺; Gas1^tm2Fan/Gas1^tm2Fan
• Genetic Background: involves: 129 * C57BL/6J

limbs/digits/tail

hindlimb oligodactyly ( J:121553 )

• digit 2 or 3 is complete absent form hindlimbs

syndactyly ( J:121553 )

• forelimb digits 2 and 3 are fused

Genotype
MGI:3711885

cx9

• Allelic Composition: Gas1^tm2Fan/Gas1⁺; Shh^tm1Chg/Shh⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

nervous system

increased neuronal precursor cell number ( J:121553 )

• pMN motorneuron progenitor cell numbers are increased

Genotype
MGI:3711884

cx10

• Allelic Composition: Gas1^tm2Fan/Gas1^tm2Fan; Shh^tm1Chg/Shh⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

limbs/digits/tail

forelimb oligodactyly ( J:121553 )

• digit 2 or 3 is absent from the forelimbs

• however, long bones are normal

craniofacial

abnormal craniofacial morphology ( J:121553 )

• cranio-skeletal defects are more significant than those seen in Gas1^tm2Fan homozygotes

short mandible ( J:121553 )

• profound truncation

abnormal nose morphology ( J:121553 )

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

nervous system

abnormal floor plate morphology ( J:121553 )

• floor plate cells adopt more dorsal fates, as shown by marker staining, than Gas1^tm2Fan homozygotes

abnormal innervation ( J:121553 )

• axonal projections are misrouted through the Isl1/2+ motor column

decreased neuronal precursor cell number ( J:121553 )

• vp3 interneuron progenitors are reduced further compared to Gas1^tm2Fan homozygotes

• pMN motorneuron progenitors are dramatically reduced although their relative dorsal position to vp3 interneuron progenitors is preserved

• however, pMN specification occurs normally

skeleton

short mandible ( J:121553 )

• profound truncation

abnormal intervertebral disk morphology ( J:121553 )

• partial fusion of intervertebral discs

abnormal vertebral body morphology ( J:121553 )

• reduction in the ossification centers

respiratory system

abnormal nose morphology ( J:121553 )

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

growth/size/body

abnormal nose morphology ( J:121553 )

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

decreased fetal size ( J:121553 )

embryo

abnormal floor plate morphology ( J:121553 )

• floor plate cells adopt more dorsal fates, as shown by marker staining, than Gas1^tm2Fan homozygotes

Genotype
MGI:3711877

cx11

• Allelic Composition: Gas1^tm2Fan/Gas1^tm2Fan; Shh^tm1Chg/Shh⁺
• Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

limbs/digits/tail

oligodactyly ( J:121554 )

• 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

holoprosencephaly ( J:121554 )

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

respiratory system

single external naris ( J:121554 )

• single nostril

craniofacial

single external naris ( J:121554 )

• single nostril

growth/size/body

single external naris ( J:121554 )

• single nostril

Genotype
MGI:3711878

cx12

• Allelic Composition: Gas1^tm2Fan/Gas1^tm2Fan; Shh^tm1Chg/Shh^tm1Chg
• Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:121554 )

• mice die after E9.5 and are all dead at E13.5

embryo

abnormal embryo turning ( J:121554 )

• at E9.5, embryos fail to undergo proper turning

abnormal rostral-caudal body axis extension ( J:121554 )

• at E9.5, double-kink in the body axis or an L-shaped body axis

embryonic growth arrest ( J:121554 )

• development arrests at E9.5

decreased embryo size ( J:121554 )

• at E9.5

growth/size/body

decreased embryo size ( J:121554 )

• at E9.5

cardiovascular system

abnormal heart tube morphology ( J:121554 )

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

enlarged pericardium ( J:121554 )

• at E9.5

homeostasis/metabolism

cardiac edema ( J:121554 )

• at E9.5, severe cardiac edema

Genotype
MGI:3711879

cx13

• Allelic Composition: Gas1^tm2Fan/Gas1^tm2Fan; Gli3^Xt-J/Gli3^Xt-J
• Genetic Background: involves: 129/Sv * C3H/HeJ * C57BL/6J

limbs/digits/tail

polydactyly ( J:121554 )

• similar to the phenotype seen in Gli3^Xt-J homozygotes