Phenotypes associated with this allele

• Allele Symbol: Clip3^tm1.1Ics
• Allele Name: targeted mutation 1.1, Mouse Clinical Institute
• Allele ID: MGI:5489756
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clip3^tm1.1Ics/Clip3^tm1.1Ics	involves: C57BL/6	MGI:5489757

Genotype
MGI:5489757

hm1

• Allelic Composition: Clip3^tm1.1Ics/Clip3^tm1.1Ics
• Genetic Background: involves: C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:194894 )

respiratory system

respiratory failure ( J:194894 )

• fail to inflate lungs

muscle

abnormal diaphragm morphology ( J:194894 )

• slight enlargement of the nAChR band in the aneural part of the diaphragm

impaired muscle contractility ( J:194894 )

• lower peak nerve-elicited tetanic contraction and more pronounced fade of the contractile response

• however, maximal contraction of the diaphragm when directly stimulated is similar to controls

nervous system

abnormal innervation pattern to muscle ( J:194894 )

• at E15.5 and E18.5, innervation of ear muscles is reduced with delayed synapsing muscles more affected than fast synapsing muscles and slow twitch muscles

• no defect is seen in the innervation of intercostal muscles

abnormal neuromuscular synapse morphology ( J:194894 )

• organization of the clusters is perturbed in the denervated region of the diaphragm

• proportion of innervated synapses is reduced by 30% in the ventral part of the diaphragm

• near the tip of nerve branches, the nerve frays out and axons appeared less fasciculated and branched than in control mice, with shredded segments of axons, varicose terminals and unoccupied nAChR clusters

• the most distal parts of the phrenic nerve in exhibit partial loss of NMJs

• in about 10% of NMJs in the diaphragm nerve terminals containing areduced number of small clear synaptic vesicles are seen in terminals totally wrapped up in terminal Schwann cell extensions

• in the ventral region of the diaphragm at E18.5, mostly single terminals and chaplets of terminals are present

abnormal phrenic nerve morphology ( J:194894 )

• lengths of the primary branches are significantly shorter at E18.5

• mean lengths of the major secondary branches of the right phrenic nerve are significantly longer compared to controls at E18.5

abnormal phrenic nerve innervation pattern to diaphragm ( J:194894 )

• incomplete innervation of the diaphragm by the phrenic nerve at E18.5

• progressive loss of innervation is observed in the most distal parts of the main phrenic branches, in particular in the ventral region of the diaphragm and to a lesser degree in the dorsal region

• by E18.5 the ventral part, and to a lesser extent the dorsal part, of the diaphragm is not innervated

homeostasis/metabolism

cyanosis ( J:194894 )