Phenotypes associated with this allele

• Allele Symbol: Gsx2^tm1Ssp
• Allele Name: targeted mutation 1, S Steven Potter
• Allele ID: MGI:2150162
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gsx2^tm1Ssp/Gsx2^tm1Ssp	involves: 129	MGI:4412074
hm2	Gsx2^tm1Ssp/Gsx2^tm1Ssp	involves: 129S2/SvPas	MGI:2676202
cx3	Ascl1^tm1And/Ascl1^tm1And Gsx2^tm1Ssp/Gsx2^tm1Ssp	involves: 129 * 129S2/SvPas	MGI:4412073
cx4	Gsx1^tm1Ssp/Gsx1^tm1Ssp Gsx2^tm1Ssp/Gsx2^tm1Ssp	involves: 129P2/OlaHsd * 129S2/SvPas	MGI:3629510

Genotype
MGI:4412074

hm1

• Allelic Composition: Gsx2^tm1Ssp/Gsx2^tm1Ssp
• Genetic Background: involves: 129

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

nervous system

abnormal olfactory sensory neuron morphology ( J:147161 )

• mice have fewer calretinin+ interneurons than in wild-type mice

abnormal brain interneuron morphology ( J:147161 )

• mice have fewer calretinin+ interneurons than in wild-type mice

craniofacial

abnormal olfactory sensory neuron morphology ( J:147161 )

• mice have fewer calretinin+ interneurons than in wild-type mice

respiratory system

abnormal olfactory sensory neuron morphology ( J:147161 )

• mice have fewer calretinin+ interneurons than in wild-type mice

taste/olfaction

abnormal olfactory sensory neuron morphology ( J:147161 )

• mice have fewer calretinin+ interneurons than in wild-type mice

growth/size/body

abnormal olfactory sensory neuron morphology ( J:147161 )

• mice have fewer calretinin+ interneurons than in wild-type mice

Genotype
MGI:2676202

hm2

• Allelic Composition: Gsx2^tm1Ssp/Gsx2^tm1Ssp
• Genetic Background: involves: 129S2/SvPas

mortality/aging

neonatal lethality, complete penetrance ( J:44324 )

• at birth, homozygotes are of normal weight and grossly identical to heterozygous and wild-type littermates; however, no homozygotes survive beyond 24 hrs after birth

• neonates exhibiting apnea can be temporarily revived by tactile stimulation; however, even prolonged handling fails to extend survival beyond 24 hrs

respiratory system

apnea ( J:44324 )

• newborn homozygotes suffer from apnea

homeostasis/metabolism

cyanosis ( J:44324 )

• newborn homozygotes exhibit periods of normal skin coloration and breathing, followed by episodes of cyanosis and cessation of breathing

hypoxia ( J:44324 )

• newborn homozygotes display significantly reduced blood oxygenation levels relative to heterozygous or wild-type mice

• however, no pulmonary anomalies are observed, as shown by normal lung morphology and statistically equivalent lung glycogen values

nervous system

abnormal forebrain development ( J:44324 )

• at E12.5 or later, homozygotes exhibit discrete defects in the basal ganglia of the developing forebrain

abnormal hindbrain development ( J:44324 )

• homozygotes fail to show normal development of the area postrema and the nucleus tractus solitarius (NTS), both involved in the control of cardiorespiratory physiology

abnormal fourth ventricle morphology ( J:44324 )

• in neonates, the fourth ventricle does close in more caudal sections, leaving a larger opening of the central canal

abnormal area postrema morphology ( J:44324 )

• at E15.5, the developing area postrema appears hypocellular; by E17.5, the area postrema fails to develop and the underlying nucleus tractus solitarius (NTS) is reduced in size

• as a result, the dorsal medial medulla corresponding to the NTS region is abnormal, and a wider fourth ventricle opening is observed

abnormal ventral striatum morphology ( J:72724 )

• reduced in size at E18.5

decreased striatum size ( J:72724 )

• striatal complex about 55% of normal size at E18.5

abnormal lateral ganglionic eminence morphology ( J:44324 )

• at E12.5 or later, homozygotes exhibit a significant size reduction of the lateral ganglionic eminence

behavior/neurological

absent gastric milk in neonates ( J:44324 )

• newborn homozygotes fail to feed, as shown by absence of milk spots in their stomachs

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:44324 )

N • homozygotes exhibit an anterior pituitary of normal size and cellularity, with no detectable abnormalities in the differentiation of cell types

Genotype
MGI:4412073

cx3

• Allelic Composition: Ascl1^tm1And/Ascl1^tm1And; Gsx2^tm1Ssp/Gsx2^tm1Ssp
• Genetic Background: involves: 129 * 129S2/SvPas

nervous system

abnormal olfactory sensory neuron morphology ( J:147161 )

• mice have fewer calretinin+ interneurons than in wild-type mice

abnormal rostral migratory stream morphology ( J:147161 )

• at E18.5, more cells stream laterally towards the ventrolateral telencephalon compared to in wild-type mice

abnormal brain interneuron morphology ( J:147161 )

• mice have fewer calretinin+ interneurons than in wild-type mice

abnormal striatum morphology ( J:147161 )

• severe at embryonic stages as determined by marker expression

abnormal lateral ganglionic eminence morphology ( J:147161 )

• as determined by marker expression

craniofacial

abnormal olfactory sensory neuron morphology ( J:147161 )

• mice have fewer calretinin+ interneurons than in wild-type mice

respiratory system

abnormal olfactory sensory neuron morphology ( J:147161 )

• mice have fewer calretinin+ interneurons than in wild-type mice

taste/olfaction

abnormal olfactory sensory neuron morphology ( J:147161 )

• mice have fewer calretinin+ interneurons than in wild-type mice

growth/size/body

abnormal olfactory sensory neuron morphology ( J:147161 )

• mice have fewer calretinin+ interneurons than in wild-type mice

Genotype
MGI:3629510

cx4

• Allelic Composition: Gsx1^tm1Ssp/Gsx1^tm1Ssp; Gsx2^tm1Ssp/Gsx2^tm1Ssp
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

nervous system

abnormal ventral striatum morphology ( J:72724 )

• about 12% of normal size at E18.5

decreased striatum size ( J:72724 )

• striatal complex about 21% of normal size at E18.5