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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dchs1tm1.2Irv
targeted mutation 1.2, Kenneth Irvine
MGI:4867020
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dchs1tm1.2Irv/Dchs1tm1.2Irv involves: 129S7/SvEvBrd * C57BL/6 MGI:5695321
hm2
Dchs1tm1.2Irv/Dchs1tm1.2Irv involves: 129S/Sv * C57BL/6 * CBA MGI:4941821
ht3
Dchs1tm1.2Irv/Dchs1+ involves: 129S7/SvEvBrd * C57BL/6 MGI:5695318
cx4
Dchs1tm1.2Irv/Dchs1tm1.2Irv
Fat4tm1.1Hmc/Fat4tm1.1Hmc
involves: 129 * C57BL/6 * CBA MGI:4941823


Genotype
MGI:5695321
hm1
Allelic
Composition
Dchs1tm1.2Irv/Dchs1tm1.2Irv
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dchs1tm1.2Irv mutation (0 available); any Dchs1 mutation (139 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• severe mitral-valve shape changes are seen at E15.5-E17.5, with changes in valve length and width at E17.5




Genotype
MGI:4941821
hm2
Allelic
Composition
Dchs1tm1.2Irv/Dchs1tm1.2Irv
Genetic
Background
involves: 129S/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dchs1tm1.2Irv mutation (0 available); any Dchs1 mutation (139 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• if wild-type littermates are removed some mice can survive for a couple of weeks

growth/size/body
• apparent decrease in the number and size of cysts compared to Fat4 homozygous null mice
• fail to grow, remaining the similar in size to newborn pups, but do show some signs of postnatal development

hearing/vestibular/ear
• about 20% shorter than in wild-type controls
• subtle (less than 2 degrees) differences in the average orientation of stereocilia

nervous system
• modest increase in the width to height ratio
• subtle (less than 2 degrees) differences in the average orientation of stereocilia

renal/urinary system
• apparent decrease in the number and size of cysts compared to Fat4 homozygous null mice
• at E15.5 a modest but significant increase in the number of cells around the circumference of distal collecting ducts is detected
• slightly dilated at P0
• striking clusters of apoptotic cells are detected in the epithelium and mesenchyme as early as E11.5
• difference in size is first detectable at E11.5 and the difference increases until E13.5 then remains fairly consistent from E15.5 to P0
• slightly less straight at P0
• slightly dilated at P0
• by E11.5 branching of the ureteric epithelium in mutants lags behind that of wild-type littermates
• by 12.5 kidney growth and branching are substantially decreased and the ureteric epithelium is wider and more irregular than in wild-type littermates

skeleton
• shorter than normal
• wider than normal
• often have a bent spine
• vertebrae in the lumbar and posterior thoracic regions show a modest increase in the width and are narrower along the anterior-posterior axis
• the centrum at the midline is malformed
• vertebrae in the lumbar and posterior thoracic regions show a modest increase in the width and are narrower along the anterior-posterior axis
• the centrum at the midline is malformed
• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions
• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions
• abnormal ossification pattern

limbs/digits/tail
• often seen

cardiovascular system
• the septum primum is often thinner and the ostium secundum is much larger than in wild-type littermates

digestive/alimentary system
• on average total intestinal length is about 72% that of wild-type littermates

respiratory system

embryo
• modest increase in the width to height ratio




Genotype
MGI:5695318
ht3
Allelic
Composition
Dchs1tm1.2Irv/Dchs1+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dchs1tm1.2Irv mutation (0 available); any Dchs1 mutation (139 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• changes in mitral-valve shape are seen at E15.5-E17.5, but not at E11.5-E13.5, with changes in valve length and width at E17.
• myxomatous degeneration with increased proteoglycan accumulation in both mitral leaflets
• prominent posterior leaflet thickening with increases in valve volume in adults
• mitral valve prolapse with pronounced involvement of the posterior leaflet, which is elongated and shifts the leaflet coaptation anteriorly

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
mitral valve prolapse DOID:988 OMIM:157700
OMIM:607829
OMIM:610840
J:225789




Genotype
MGI:4941823
cx4
Allelic
Composition
Dchs1tm1.2Irv/Dchs1tm1.2Irv
Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic
Background
involves: 129 * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dchs1tm1.2Irv mutation (0 available); any Dchs1 mutation (139 available)
Fat4tm1.1Hmc mutation (1 available); any Fat4 mutation (223 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• mostly subtle (less than 2 degrees) differences in the average orientation of stereocilia
• in the outermost row of hair cells there is a 4 degree difference in the average orientation of stereocilia

nervous system
• increase in the width to height ratio
• mostly subtle (less than 2 degrees) differences in the average orientation of stereocilia
• in the outermost row of hair cells there is a 4 degree difference in the average orientation of stereocilia

skeleton
• shorter than normal
• wider than normal
• vertebrae in the lumbar and posterior thoracic regions show a modest increase in the width and are narrower along the anterior-posterior axis
• the centrum at the midline is malformed
• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions
• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions
• abnormal ossification pattern

respiratory system

embryo
• increase in the width to height ratio





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
04/16/2024
MGI 6.23
The Jackson Laboratory