Phenotypes associated with this allele

• Allele Symbol: Slc10a7^{tm1a(EUCOMM)Hmgu}
• Allele Name: targeted mutation 1a, Helmholtz Zentrum Muenchen GmbH
• Allele ID: MGI:4455649
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc10a7^tm1a(EUCOMM)Hmgu/Slc10a7^tm1a(EUCOMM)Hmgu	C57BL/6N-Slc10a7^tm1a(EUCOMM)Hmgu	MGI:6199708

Genotype
MGI:6199708

hm1

• Allelic Composition: Slc10a7^{tm1a(EUCOMM)Hmgu}/Slc10a7^{tm1a(EUCOMM)Hmgu}
• Genetic Background: C57BL/6N-Slc10a7^{tm1a(EUCOMM)Hmgu}

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

abnormal enamel morphology ( J:265027 )

• absence of the external aprismatic enamel layer on the incisors

• hypoplastic areas are seen in the external prismatic enamel layer

abnormal enamel rod pattern ( J:265027 )

• less well-defined rods and inter-rod structures in the prismatic enamel layer

abnormal nasal bone morphology ( J:265027 )

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

short nasal bone ( J:265027 )

abnormal head shape ( J:265027 )

narrow head ( J:265027 )

• decreased head width

round head ( J:265027 )

• at birth

shortened head ( J:265027 )

• decreased head length

decreased birth body size ( J:265027 )

• decreased body length

decreased birth weight ( J:265027 )

decreased body weight ( J:265027 )

• at 8 weeks of age

postnatal growth retardation ( J:265027 )

• continues after birth with mice being smaller at 8 weeks of age

craniofacial

abnormal neurocranium morphology ( J:265027 )

short frontal bone ( J:265027 )

small occipital bone ( J:265027 )

• short occipital bone with a slighter reduction in width

small parietal bone ( J:265027 )

• reduction is not as severe as in the nasal, occipital, and frontal bones

• reduction in width is less severe than in length

abnormal enamel morphology ( J:265027 )

• absence of the external aprismatic enamel layer on the incisors

• hypoplastic areas are seen in the external prismatic enamel layer

abnormal enamel rod pattern ( J:265027 )

• less well-defined rods and inter-rod structures in the prismatic enamel layer

abnormal mandibular angle morphology ( J:265027 )

• significant increase in the angle formed by the two hemi-mandibles

abnormal nasal bone morphology ( J:265027 )

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

short nasal bone ( J:265027 )

abnormal head shape ( J:265027 )

narrow head ( J:265027 )

• decreased head width

round head ( J:265027 )

• at birth

shortened head ( J:265027 )

• decreased head length

skeleton

skeleton phenotype ( J:265027 )

N • no large joint dislocations are detected at birth or 8 weeks of age

N • interparietal bone length is similar to controls

abnormal neurocranium morphology ( J:265027 )

short frontal bone ( J:265027 )

small occipital bone ( J:265027 )

• short occipital bone with a slighter reduction in width

small parietal bone ( J:265027 )

• reduction is not as severe as in the nasal, occipital, and frontal bones

• reduction in width is less severe than in length

abnormal enamel morphology ( J:265027 )

• absence of the external aprismatic enamel layer on the incisors

• hypoplastic areas are seen in the external prismatic enamel layer

abnormal enamel rod pattern ( J:265027 )

• less well-defined rods and inter-rod structures in the prismatic enamel layer

abnormal mandibular angle morphology ( J:265027 )

• significant increase in the angle formed by the two hemi-mandibles

abnormal nasal bone morphology ( J:265027 )

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

short nasal bone ( J:265027 )

abnormal phalanx morphology ( J:265027 )

• increased ossification

abnormal tarsal bone morphology ( J:265027 )

• increased ossification

abnormal femur morphology ( J:265027 )

• 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

abnormal metatarsal bone morphology ( J:265027 )

• increased ossification

abnormal long bone epiphysis morphology ( J:265027 )

• reduced femur epiphysis size

decreased length of long bones ( J:265027 )

• shorter and thicker long bones at birth and 8 weeks of age

short humerus ( J:265027 )

• at birth and 8 weeks of age

short radius ( J:265027 )

• at birth and 8 weeks of age

short femur ( J:265027 )

• at birth and 8 weeks of age

short tibia ( J:265027 )

• at birth and 8 weeks of age

increased diameter of long bones ( J:265027 )

• shorter and thicker long bones at birth and 8 weeks of age

decreased bone mineral density ( J:265027 )

• decreased in trabecular but not cortical bones

decreased bone volume ( J:265027 )

• significantly lower bone volume/total volume ratio for both trabecular and cortical bones

decreased compact bone volume ( J:265027 )

decreased trabecular bone volume ( J:265027 )

decreased trabecular bone thickness ( J:265027 )

• decrease in thickness but not number

abnormal cartilage morphology ( J:265027 )

• significant reduction in heparan sulfate levels in cartilage but not in muscle tissue

abnormal long bone epiphyseal plate morphology ( J:265027 )

• the different chondrocyte layers are less discernible

• staining indicates the presence of more collagen fibers

abnormal long bone epiphyseal plate proliferative zone ( J:265027 )

• proliferative chondrocytes are more tightly packed and the thickness of the proliferative zone is reduced

decreased width of hypertrophic chondrocyte zone ( J:265027 )

• thickness is reduced to two or three cells and the alignment of these cells is anarchic

decreased long bone epiphyseal plate size ( J:265027 )

• growth plates are much thinner

disorganized long bone epiphyseal plate ( J:265027 )

increased bone ossification ( J:265027 )

• increased ossification in the tarsals, metatarsals, and phalanges

limbs/digits/tail

brachypodia ( J:265027 )

• both hind and forefeet are shorter

• autopod is not as severely affected as the stylopod and zeugopod

abnormal phalanx morphology ( J:265027 )

• increased ossification

abnormal tarsal bone morphology ( J:265027 )

• increased ossification

short humerus ( J:265027 )

• at birth and 8 weeks of age

short radius ( J:265027 )

• at birth and 8 weeks of age

abnormal femur morphology ( J:265027 )

• 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

short femur ( J:265027 )

• at birth and 8 weeks of age

short tibia ( J:265027 )

• at birth and 8 weeks of age

abnormal metatarsal bone morphology ( J:265027 )

• increased ossification

respiratory system

abnormal nasal bone morphology ( J:265027 )

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

short nasal bone ( J:265027 )

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