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Phenotypes Associated with This Genotype
Genotype
MGI:6199708
Allelic
Composition
Slc10a7tm1a(EUCOMM)Hmgu/Slc10a7tm1a(EUCOMM)Hmgu
Genetic
Background
C57BL/6N-Slc10a7tm1a(EUCOMM)Hmgu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc10a7tm1a(EUCOMM)Hmgu mutation (1 available); any Slc10a7 mutation (96 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• absence of the external aprismatic enamel layer on the incisors
• hypoplastic areas are seen in the external prismatic enamel layer
• less well-defined rods and inter-rod structures in the prismatic enamel layer
• 2 of 6 have a deviated nasal bone and one had a shortened nasal bone
• decreased head width
• at birth
• decreased head length
• decreased body length
• at 8 weeks of age
• continues after birth with mice being smaller at 8 weeks of age

craniofacial
• short occipital bone with a slighter reduction in width
• reduction is not as severe as in the nasal, occipital, and frontal bones
• reduction in width is less severe than in length
• absence of the external aprismatic enamel layer on the incisors
• hypoplastic areas are seen in the external prismatic enamel layer
• less well-defined rods and inter-rod structures in the prismatic enamel layer
• significant increase in the angle formed by the two hemi-mandibles
• 2 of 6 have a deviated nasal bone and one had a shortened nasal bone
• decreased head width
• at birth
• decreased head length

skeleton
N
• no large joint dislocations are detected at birth or 8 weeks of age
• interparietal bone length is similar to controls
• short occipital bone with a slighter reduction in width
• reduction is not as severe as in the nasal, occipital, and frontal bones
• reduction in width is less severe than in length
• absence of the external aprismatic enamel layer on the incisors
• hypoplastic areas are seen in the external prismatic enamel layer
• less well-defined rods and inter-rod structures in the prismatic enamel layer
• significant increase in the angle formed by the two hemi-mandibles
• 2 of 6 have a deviated nasal bone and one had a shortened nasal bone
• increased ossification
• increased ossification
• enlarged distal condyles, more prominent proximal trochanters and shorter necks at 8 weeks of age
• femur metaphysis sections show a triangular rather than elliptical shape
• increased ossification
• reduced femur epiphysis size
• shorter and thicker long bones at birth and 8 weeks of age
• at birth and 8 weeks of age
• at birth and 8 weeks of age
• at birth and 8 weeks of age
• at birth and 8 weeks of age
• shorter and thicker long bones at birth and 8 weeks of age
• decreased in trabecular but not cortical bones
• significantly lower bone volume/total volume ratio for both trabecular and cortical bones
• decrease in thickness but not number
• significant reduction in heparan sulfate levels in cartilage but not in muscle tissue
• the different chondrocyte layers are less discernible
• staining indicates the presence of more collagen fibers
• proliferative chondrocytes are more tightly packed and the thickness of the proliferative zone is reduced
• thickness is reduced to two or three cells and the alignment of these cells is anarchic
• growth plates are much thinner
• increased ossification in the tarsals, metatarsals, and phalanges

limbs/digits/tail
• both hind and forefeet are shorter
• autopod is not as severely affected as the stylopod and zeugopod
• increased ossification
• increased ossification
• at birth and 8 weeks of age
• at birth and 8 weeks of age
• enlarged distal condyles, more prominent proximal trochanters and shorter necks at 8 weeks of age
• femur metaphysis sections show a triangular rather than elliptical shape
• at birth and 8 weeks of age
• at birth and 8 weeks of age
• increased ossification

respiratory system
• 2 of 6 have a deviated nasal bone and one had a shortened nasal bone

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
syndrome DOID:225 J:265027


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
12/10/2024
MGI 6.24
The Jackson Laboratory