Phenotypes associated with this allele

• Allele Symbol: Plaa^{tm1(NCOM)Cmhd}
• Allele Name: targeted mutation 1, Centre for Modeling Human Disease
• Allele ID: MGI:4880046
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Plaa^tm1(NCOM)Cmhd/Plaa^tm1(NCOM)Cmhd	either: (involves: C57BL/6J * C57BL/6NTac) or (involves: C57BL/6NTac * CD1)	MGI:6152461
ht2	Plaa^em1Pmi/Plaa^tm1(NCOM)Cmhd	either: (involves: C57BL/6J * C57BL/6NTac) or (involves: C57BL/6J * C57BL/6NTac * CD-1)	MGI:6152465

Genotype
MGI:6152461

hm1

• Allelic Composition: Plaa^{tm1(NCOM)Cmhd}/Plaa^{tm1(NCOM)Cmhd}
• Genetic Background: either: (involves: C57BL/6J * C57BL/6NTac) or (involves: C57BL/6NTac * CD1)

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

cellular

abnormal vesicle-mediated transport ( J:240526 )

• in mouse embryo fibroblasts (MEFs)

• endocytosis of Egf-Egfr ligand-receptor complex to early endosomes

• impaired trafficking of Egf-Egfr ligand-receptor complex from early to late endosomes

• endocytosed membrane proteins remain trapped in endosomal membrane

mortality/aging

prenatal lethality, complete penetrance ( J:240526 )

• most embryos die by E11.5; no embryos develop and survive to weaning stage

• few embryos that survive to E15.5 are runted and anemic

Genotype
MGI:6152465

ht2

• Allelic Composition: Plaa^em1Pmi/Plaa^{tm1(NCOM)Cmhd}
• Genetic Background: either: (involves: C57BL/6J * C57BL/6NTac) or (involves: C57BL/6J * C57BL/6NTac * CD-1)

behavior/neurological

limb grasping ( J:240526 )

• in hindlimbs when suspended from tail

tremors ( J:240526 )

impaired balance ( J:240526 )

weakness ( J:240526 )

abnormal gait ( J:240526 )

• increase in back/front step length ratio

decreased locomotor activity ( J:240526 )

paralysis ( J:240526 )

growth/size/body

decreased body weight ( J:240526 )

• at age P14

mortality/aging

preweaning lethality, complete penetrance ( J:240526 )

• mice die by P17-P21

nervous system

small cerebellum ( J:240526 )

• at age P20

abnormal neuromuscular synapse morphology ( J:240526 )

• increased numbers of endplates with terminal swellings from age P14

respiratory system

respiratory distress ( J:240526 )