Phenotypes Associated with This Genotype

Genotype
MGI:5516588

• Allelic Composition: Ark2c^Gt(P9-3F)Sor/Ark2c^Gt(P9-3F)Sor; Tg(Hlxb9-GFP)1Tmj/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * CBA

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

mortality/aging

postnatal lethality, complete penetrance ( J:198828 )

• all mice die within the first 3 postnatal weeks

• however, some mice survive beyond weaning one an unspecified mixed background

neonatal lethality, incomplete penetrance ( J:198828 )

• some mice die at birth

nervous system

nervous system phenotype ( J:198828 )

N • lateral motor column specification is normal

abnormal axon extension ( J:198828 )

• at E11.5, more dorsal radial and median nerves are reduced in length and width without compensatory increase in the size of the more ventral ulnar or thoracodorsal nerves compared to in wild-type mice

• at E12.5, radial nerves are thin and axons do not reach the more distal dorsal target muscles

• impaired motor axon extension in the dorsal forelimb

• however, no misrouting is observed

abnormal motor neuron innervation pattern ( J:198828 )

• at E13.5, mice exhibit dorsal muscle innervation to varying degrees with increased severity towards the distal muscles controlling digits compared with wild-type mice

• however, forelimb innervation at E11.5 is normal

abnormal phrenic nerve innervation pattern to diaphragm ( J:198828 )

• increased phrenic nerve synapses with reduced synaptic band width within the diaphragm at E18.5

• reduced individual axon length form the phrenic nerve to the synapse at E18 and P17

homeostasis/metabolism

increased circulating lactate level ( J:198828 )

• increased serum lactate levels in mice on a mixed background that survive beyond weaning

cyanosis ( J:198828 )

• mild in postnatal mice at death

dehydration ( J:198828 )

• in postnatal mice at death

hypoxia ( J:198828 )

• mild in mice on a mixed background that survive beyond weaning

growth/size/body

abnormal body size ( J:198828 )

• mice are thin

decreased body size ( J:198828 )

• 50% of normal at P15

• however, body size is normal at E18.5

postnatal growth retardation ( J:198828 )

• newborns fail to grow and thrive

limbs/digits/tail

abnormal autopod morphology ( J:198828 )

• reduced mean foot length due to reduced tor extension

abnormal forelimb morphology ( J:198828 )

• atrophy of forelimb muscles that control forepaw and digit movement

abnormal hindlimb morphology ( J:198828 )

• in some mice

behavior/neurological

aphagia ( J:198828 )

• empty stomach and gut in postnatal mice at death

decreased grip strength ( J:198828 )

• reduced hang time from a cage lid

muscle

skeletal muscle atrophy ( J:198828 )

• bilateral atrophy of forelimb muscles that control forepaw and digit movement

cellular

abnormal axon extension ( J:198828 )

• at E11.5, more dorsal radial and median nerves are reduced in length and width without compensatory increase in the size of the more ventral ulnar or thoracodorsal nerves compared to in wild-type mice

• at E12.5, radial nerves are thin and axons do not reach the more distal dorsal target muscles

• impaired motor axon extension in the dorsal forelimb

• however, no misrouting is observed

skeleton

abnormal joint mobility ( J:198828 )

• mice are born with relaxed forepaws and reduced dorsioflexion

• at P21 and 3 to 6 months, mice on an unspecified mixed background are unable to extend and spread forepaw digits