Phenotypes associated with this allele

• Allele Symbol: Lrp4^tm1.1Line
• Allele Name: targeted mutation 1.1, Lin Mei
• Allele ID: MGI:5440737
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Lrp4^tm1.1Line/Lrp4^tm1.1Line Mnx1^tm4(cre)Tmj/Mnx1^+ Tg(ACTA1-cre)79Jme/0	involves: 129S/SvEv * 129S1/Sv * C57BL/6 * C57BL/6J * SJL	MGI:5440761
cn2	Lrp4^tm1.1Line/Lrp4^tm1.1Line Mnx1^tm4(cre)Tmj/Mnx1^+	involves: 129S/SvEv * 129S1/Sv * C57BL/6 * SJL	MGI:5440760
cn3	Lrp4^tm1.1Line/Lrp4^tm1.1Line Tg(ACTA1-cre)79Jme/0	involves: 129S/SvEv * C57BL/6 * C57BL/6J * SJL	MGI:5440759

Genotype
MGI:5440761

cn1

• Allelic Composition: Lrp4^tm1.1Line/Lrp4^tm1.1Line; Mnx1^tm4(cre)Tmj/Mnx1⁺; Tg(ACTA1-cre)79Jme/0
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 * C57BL/6J * SJL

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

mortality/aging

neonatal lethality, complete penetrance ( J:188352 )

• with cyanosis

nervous system

abnormal motor neuron morphology ( J:188352 )

• increased number and length of secondary or intramuscular branches with tertiary and quaternary branches

• secondary branches are longer than in Lrp4^tm1.1Line/Lrp4^tm1.1Line Tg(ACTA1-cre)79Jme mice

• nerve terminals are fragmented in diaphragm

abnormal neuromuscular synapse morphology ( J:188352 )

• severely impaired formation

• almost undetectable in the diaphragm at E13.5

• fewer and smaller AChR clusters

homeostasis/metabolism

cyanosis ( J:188352 )

• soon after birth

Genotype
MGI:5440760

cn2

• Allelic Composition: Lrp4^tm1.1Line/Lrp4^tm1.1Line; Mnx1^tm4(cre)Tmj/Mnx1⁺
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:188352 )

N • mice exhibit normal neuromuscular synapse formation

Genotype
MGI:5440759

cn3

• Allelic Composition: Lrp4^tm1.1Line/Lrp4^tm1.1Line; Tg(ACTA1-cre)79Jme/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6J * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:188352 )

• most mice do not die until P15

• few mice survive beyond the postnatal period

nervous system

abnormal motor neuron morphology ( J:188352 )

• increased number and length of secondary or intramuscular branches with tertiary and quaternary branches

• motor axons fail to terminate at AChR clusters

• however, primary nerve branches are normal

abnormal neuromuscular synapse morphology ( J:188352 )

• abnormal AChR clusters in the diaphragm with wider area in the middle of muscle fibers, increased endplate band-width (at P0 and P10), elongated morphology, reduced average cluster size and increased cluster number

• ectopic AChR clusters

abnormal endplate potential ( J:188352 )

• decreased amplitudes of endplate potentials

abnormal miniature endplate potential ( J:188352 )

• smaller than in control mice