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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Chattm1Fhg
targeted mutation 1, Fred H Gage
MGI:2450310
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Chattm1Fhg/Chattm1Fhg involves: 129S2/SvPas * C57BL/6 MGI:2662570
hm2
 		Chattm1Fhg/Chattm1Fhg involves: 129S4/SvJae MGI:4462393


Genotype
MGI:2662570
hm1
Allelic
Composition		 Chattm1Fhg/Chattm1Fhg
Genetic
Background		 involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chattm1Fhg mutation (0 available); any Chat mutation (57 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality, complete penetrance ( J:81738 )
• death at birth, putatively due to an absence of synaptic transmission in the diaphragm muscle

behavior/neurological

growth/size/body
decreased fetal size ( J:81738 )
• reduced body length of fetus at E18.5

skeleton

nervous system
abnormal innervation ( J:81738 )
• increased nerve branching resulting in hyperinnervation throughout embryonic neuromuscular development
abnormal neuromuscular synapse morphology ( J:81738 )
• abnormal morphology and patterning of neuromuscular synapses
abnormal PNS synaptic transmission ( J:81738 )
• no neurotransmission at neuromuscular junction

reproductive system
reproductive system phenotype ( J:113236 )
N
• at E18, mutant ovaries show no differences in size and cellular composition relative to age-matched wild-type ovaries, suggesting normal ovarian and follicular development

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
congenital myasthenic syndrome 6 DOID:0110671 OMIM:254210
 J:81738




Genotype
MGI:4462393
hm2
Allelic
Composition		 Chattm1Fhg/Chattm1Fhg
Genetic
Background		 involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chattm1Fhg mutation (0 available); any Chat mutation (57 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system




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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Send questions and comments to User Support. 		last database update
04/09/2024
MGI 6.23 		The Jackson Laboratory