Phenotypes associated with this allele

• Allele Symbol: Slc39a13^tm1Thir
• Allele Name: targeted mutation 1, Toshio Hirano
• Allele ID: MGI:3829756
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc39a13^tm1Thir/Slc39a13^tm1Thir	involves: 129S1/Sv * 129X1/SvJ	MGI:3829897

Genotype
MGI:3829897

hm1

• Allelic Composition: Slc39a13^tm1Thir/Slc39a13^tm1Thir
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

Growth retardation, kyphosis, osteopenia, and abnormal cartilage development in Slc39a13^tm1Thir/Slc39a13^tm1Thir mice

cellular

abnormal osteoblast physiology ( J:143911 )

• reduced bone calcification

growth/size/body

abnormal alveolar process morphology ( J:143911 )

• reduced alveolar bone

abnormal tooth morphology ( J:143911 )

abnormal incisor morphology ( J:143911 )

• deformation

• breakage

abnormal molar root morphology ( J:143911 )

• reduced root dentin formation of molar teeth

• normal crowns

brittle teeth ( J:143911 )

• breakage of incisor teeth

malocclusion ( J:143911 )

• involving incisors

postnatal growth retardation ( J:143911 )

• by 3-4 weeks of age

skeleton

abnormal osteoblast physiology ( J:143911 )

• reduced bone calcification

abnormal jaw morphology ( J:143911 )

abnormal alveolar process morphology ( J:143911 )

• reduced alveolar bone

abnormal tooth morphology ( J:143911 )

abnormal incisor morphology ( J:143911 )

• deformation

• breakage

abnormal molar root morphology ( J:143911 )

• reduced root dentin formation of molar teeth

• normal crowns

brittle teeth ( J:143911 )

• breakage of incisor teeth

malocclusion ( J:143911 )

• involving incisors

small mandible ( J:143911 )

• bone volume fraction of mandible is markedly reduced

small maxilla ( J:143911 )

abnormal long bone morphology ( J:143911 )

abnormal long bone epiphysis morphology ( J:143911 )

thickened long bone epiphysis ( J:143911 )

• width of growth plates is elongated

abnormal long bone metaphysis morphology ( J:143911 )

• reduced osteoid thickness in the tibia

decreased length of long bones ( J:143911 )

kyphosis ( J:143911 )

• develop progressive kyphosis after 3-4 weeks of age

abnormal bone structure ( J:143911 )

• decreased bone volume

• bone volume/total tissue vol is reduced

decreased bone mineral density ( J:143911 )

• bone mineral density is reduced in skull, mandible, and femur

decreased bone mineral density of femur ( J:143911 )

decreased compact bone thickness ( J:143911 )

decreased bone trabecula number ( J:143911 )

• decreased number of trabeculae

abnormal epiphyseal plate morphology ( J:143911 )

abnormal long bone epiphyseal plate proliferative zone ( J:143911 )

• organization is irregular after 2-3 weeks

abnormal long bone hypertrophic chondrocyte zone ( J:143911 )

• hypertrophic chondrocytes rarely observed after 2-3 weeks

craniofacial

abnormal jaw morphology ( J:143911 )

abnormal alveolar process morphology ( J:143911 )

• reduced alveolar bone

abnormal tooth morphology ( J:143911 )

abnormal incisor morphology ( J:143911 )

• deformation

• breakage

abnormal molar root morphology ( J:143911 )

• reduced root dentin formation of molar teeth

• normal crowns

brittle teeth ( J:143911 )

• breakage of incisor teeth

malocclusion ( J:143911 )

• involving incisors

small mandible ( J:143911 )

• bone volume fraction of mandible is markedly reduced

small maxilla ( J:143911 )

vision/eye

decreased cornea thickness ( J:143911 )

• substantia propria of the cornea is thin

enophthalmos ( J:143911 )

abnormal eyelid aperture ( J:143911 )

• downslanting palpebral fissure

integument

abnormal dermal layer morphology ( J:143911 )

• layer of collagen fibers in the dermis is thin

• individual fibrils are small but vary widely in size

• fibroblasts mostly rounded in shape