Phenotypes Associated with This Genotype

Genotype
MGI:3617985

• Allelic Composition: Shh^tm2Amc/Shh^tm2Amc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

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

mortality/aging

postnatal lethality, complete penetrance ( J:102950 )

• death by P15

growth/size/body

microcephaly ( J:102950 )

decreased body size ( J:147427 )

• animals are smaller than littermates, but are postnatally viable and have relatively normal gross morphology

postnatal growth retardation ( J:102950 )

• marked reduction in growth by the second postnatal week

nervous system

seizures ( J:102950 )

• pronounced extension of the hindlimbs in response to handling and seizure-like behavior by the second postnatal week

abnormal brain interneuron morphology ( J:102950 )

• reductions of somatostatin- and parvalbumin-expressing interneurons in somatosensory cortex

• somatostatin- and Npy-expressing interneurons are also reduced in the striatum

decreased brain size ( J:102950 , J:147427 )

• 10% decrease in cortical thickness at P12 (J:102950)

• animals display slightly smaller brain size than control littermates, but overall morphology of brain is relatively normal (J:147427)

disorganized thalamus ( J:147427 )

• thalamus organization is disrupted in mutants based on molecular marker analysis

abnormal medial ganglionic eminence morphology ( J:102950 )

• reduced interneuron fate determining gene Nkx2.1 expression in progenitors of the medial ganglionic eminence (MGE) cells in S-phase

• a subtle disruption of MGE patterning indicated by reduction of Gli1 and Nkx6.2 expression is observed

• however, other aspects of MGE progenitor identity are maintained

behavior/neurological

seizures ( J:102950 )

• pronounced extension of the hindlimbs in response to handling and seizure-like behavior by the second postnatal week