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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mks1tm1a(EUCOMM)Wtsi
targeted mutation 1a, Wellcome Trust Sanger Institute
MGI:4433029
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi B6JTyr;B6N-Mks1tm1a(EUCOMM)Wtsi/Wtsi MGI:6262891
hm2
Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi involves: C57BL/6 * C57BL/6N MGI:5503965
hm3
Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi involves: C57BL/6N MGI:5544029
ht4
Mks1tm1a(EUCOMM)Wtsi/Mks1+ B6JTyr;B6N-Mks1tm1a(EUCOMM)Wtsi/Wtsi MGI:5781670


Genotype
MGI:6262891
hm1
Allelic
Composition
Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic
Background
B6JTyr;B6N-Mks1tm1a(EUCOMM)Wtsi/Wtsi
Cell Lines EPD0143_4_A03
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mks1tm1a(EUCOMM)Wtsi mutation (1 available); any Mks1 mutation (3 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:5503965
hm2
Allelic
Composition
Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic
Background
involves: C57BL/6 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mks1tm1a(EUCOMM)Wtsi mutation (1 available); any Mks1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• loss of cilia from neuroepithelium cells at E16.5
• in the cerebellar hemispheres
• periventricular heterotopias
• reduced anteriorposterior axis
• semilobular
• in most mice
• downward persistence
• poorly developed median longitudional septum separating the cereberal hemispheres
• disorganized lamination without formation of clear cortical plate and diffuse cell proliferation

skeleton
• complex posterior fossa defects
• incomplete closure
• in 7 of 35 mice
• bowed and shortened
• on the first digit in the hindlimb

cellular
• mouse embryonic fibroblasts exhibit fewer and shorter cilia compared with wild-type cells
• loss of cilia from neuroepithelium cells at E16.5
• in the cerebellar hemispheres
• in the cerebellar hemispheres and neocortex
• in renal tubules at E14.5

craniofacial
• complex posterior fossa defects
• incomplete closure
• in 7 of 35 mice
• in 4 of 35 mice

renal/urinary system
• in renal tubules at E14.5
• from E16.5
• from E16.5

respiratory system
• respiratory insufficiency at birth

vision/eye
• in 1 of 35 mice

growth/size/body
• in 4 of 35 mice

cardiovascular system

embryo
• in 6 of 10 mice

limbs/digits/tail
• on the first digit in the hindlimb
• only on the hindlimb

liver/biliary system

homeostasis/metabolism
• at birth

hearing/vestibular/ear
• in 2 of 29 mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Meckel syndrome DOID:0050778 OMIM:PS249000
J:196290




Genotype
MGI:5544029
hm3
Allelic
Composition
Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic
Background
involves: C57BL/6N
Cell Lines EPD0143_4_A03
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mks1tm1a(EUCOMM)Wtsi mutation (1 available); any Mks1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• in 6 of 9 mice at E14.5

limbs/digits/tail
• in 6 of 9 mice at E14.5

vision/eye
• in 6 of 9 mice at E14.5




Genotype
MGI:5781670
ht4
Allelic
Composition
Mks1tm1a(EUCOMM)Wtsi/Mks1+
Genetic
Background
B6JTyr;B6N-Mks1tm1a(EUCOMM)Wtsi/Wtsi
Cell Lines EPD0143_4_A03
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mks1tm1a(EUCOMM)Wtsi mutation (1 available); any Mks1 mutation (3 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype
integument





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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
10/08/2019
MGI 6.14
The Jackson Laboratory