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Phenotypes Associated with This Genotype
Genotype
MGI:4838425
Allelic
Composition
Col13a1tm3.1Pih/Col13a1tm3.1Pih
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col13a1tm3.1Pih mutation (2 available); any Col13a1 mutation (69 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• presynaptic defects include a failure of synaptic vesicles to properly cluster in the nerve terminal and remain in axons unlike in wild-type mice
• mice exhibit abnormal acetylcholine receptor clusters in the postsynaptic membrane compared with wild-type
• presynaptic defects include a failure of synaptic vesicles to properly cluster in the nerve terminal and remain in axons, nerve terminals that fail to fully cover acetylcholine receptor clusters, and synaptic vesicle-rich sprouts that extend beyond the border of the postsynaptic specialization unlike in wild-type mice
• neuromuscular junctions exhibit erroneously enwrapped nerve terminals and decreased contact surface for neurotransmission compared to in wild-type mice
• at P14, acetylcholine receptor clusters are smaller than in wild-type and remain unperforated and unbranched unlike in wild-type mice
• at P28 and P56, acetylcholine receptor clusters remain small, simple, and plaque-like unlike in wild-type mice
• motor nerves elicit slightly reduced postsynaptic endplate potential compared to in wild-type mice
• paired-pulse stimulation with interstimulus intervals of 30 ms induces depression unlike in similarly treated wild-type mice
• mice exhibit slightly reduced miniature endplate potential (MEPP) amplitude and dramatically reduced MEPP frequency compared to in wild-type mice
• enhanced acetylcholine quantal release induced by sucrose or potassium is compromised compared to in wild-type mice

behavior/neurological

growth/size/body
• while mice exhibit normal weights at birth and in adulthood, mice exhibit slow grow at puberty compared with wild-type mice

cellular
• presynaptic defects include a failure of synaptic vesicles to properly cluster in the nerve terminal and remain in axons unlike in wild-type mice


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/28/2026
MGI 6.24
The Jackson Laboratory