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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Smn1tm1Rako
targeted mutation 1, Rashmi Kothary
MGI:4398734
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Smn1tm1Msd/Smn1tm1Rako involves: 129P2/OlaHsd * C57BL/6 * CD-1 MGI:4398737
cx2
 		Pfn2tm1Wit/Pfn2tm1Wit
Smn1tm1Msd/Smn1tm1Rako 		involves: 129P2/OlaHsd * C57BL/6 * CD-1 MGI:4398738
cx3
 		Pfn2tm1Wit/Pfn2+
Smn1tm1Msd/Smn1tm1Rako 		involves: 129P2/OlaHsd * C57BL/6 * CD-1 MGI:4398739


Genotype
MGI:4398737
ht1
Allelic
Composition		 Smn1tm1Msd/Smn1tm1Rako
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1tm1Msd mutation (37 available); any Smn1 mutation (86 available)
Smn1tm1Rako mutation (0 available); any Smn1 mutation (86 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:154248 )
• most mice die by 1 month of age

nervous system
decreased motor neuron number ( J:154248 )
• in the brain stem and spinal cord at P21

skeleton
abnormal spine curvature ( J:154248 )
• in mice that survive beyond 1 month

behavior/neurological
abnormal gait ( J:154248 )
• in mice that survive beyond 1 month
paraparesis ( J:154248 )
• mice that survive beyond 1 month exhibit hind limb weakness

growth/size/body
decreased body size ( J:154248 )
• at 3 weeks of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Werdnig-Hoffmann disease DOID:13137 OMIM:253300
 J:154248




Genotype
MGI:4398738
cx2
Allelic
Composition		 Pfn2tm1Wit/Pfn2tm1Wit
Smn1tm1Msd/Smn1tm1Rako
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pfn2tm1Wit mutation (0 available); any Pfn2 mutation (7 available)
Smn1tm1Msd mutation (37 available); any Smn1 mutation (86 available)
Smn1tm1Rako mutation (0 available); any Smn1 mutation (86 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:154248 )
• most mice die by 1 month of age

growth/size/body
decreased body size ( J:154248 )
• at 3 weeks of age




Genotype
MGI:4398739
cx3
Allelic
Composition		 Pfn2tm1Wit/Pfn2+
Smn1tm1Msd/Smn1tm1Rako
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pfn2tm1Wit mutation (0 available); any Pfn2 mutation (7 available)
Smn1tm1Msd mutation (37 available); any Smn1 mutation (86 available)
Smn1tm1Rako mutation (0 available); any Smn1 mutation (86 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:154248 )
• most mice die by 1 month of age

nervous system
decreased motor neuron number ( J:154248 )
• in the brain stem and spinal cord at 3 weeks of age

growth/size/body
decreased body size ( J:154248 )
• at 3 weeks of age
weight loss ( J:154248 )




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
04/16/2024
MGI 6.23 		The Jackson Laboratory