Phenotypes associated with this allele

• Allele Symbol: Fam83h^tm1.1Jpsi
• Allele Name: targeted mutation 1.1, James Simmer
• Allele ID: MGI:6143820
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fam83h^tm1.1Jpsi/Fam83h^tm1.1Jpsi	involves: C57BL/6	MGI:6160862

Genotype
MGI:6160862

hm1

• Allelic Composition: Fam83h^tm1.1Jpsi/Fam83h^tm1.1Jpsi
• Genetic Background: involves: C57BL/6

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

mortality/aging

premature death ( J:257948 )

• only a few mice survive to 7 weeks of age

postnatal lethality, incomplete penetrance ( J:257948 )

• mice are born at the expected Mendelian ratio and appear overtly normal at birh; however, most mice die within 2 weeks after birth

growth/size/body

delayed tooth eruption ( J:257948 )

• at 7 weeks of age, mice show a slightly reduced rate of incisor eruption; during level 8 of enamel formation, the cross-sectional area of pulp chamber is smaller than that in wild-type controls, giving odontoblasts more time to add dentin

abnormal oral cavity morphology ( J:257948 )

• at 7 weeks of age, coat hair is found in the labial gingival sulci of the mandibular incisors as well as in the gingival sulci of some molars; the inserted coat hair is easily removed, indicating deep pockets around the incisors and molars

periodontal pocket ( J:257948 )

• at 7 weeks of age, potential deep periodontal pockets are observed around incisors and molars with inserted coat hairs

• however, only mild alveolar bone destruction is seen around these teeth

decreased body size ( J:257948 )

• mice surviving to 7 weeks of age appear smaller than wild-type controls

integument

sparse hair ( J:257948 )

• mice surviving to 7 weeks of age have a sparse coat; their fur tends to shed

disheveled coat ( J:257948 )

• mice surviving to 7 weeks of age have a scruffy coat

scaly skin ( J:257948 )

• at 7 weeks of age, mice exhibit a mildly scurfy skin

behavior/neurological

weakness ( J:257948 )

• mice surviving to 7 weeks of age exhibit general weakness

decreased locomotor activity ( J:257948 )

• mice surviving to 7 weeks of age show reduced general activity

craniofacial

craniofacial phenotype ( J:257948 )

N • unexpectedly, mice show normal dental enamel formation with no differences in enamel thickness, density, Knoop hardness, morphology, and prism patterns relative to wild-type controls

N • ameloblast histology is normal in all stages of development in both molars and incisors with no signs of pathology

delayed tooth eruption ( J:257948 )

• at 7 weeks of age, mice show a slightly reduced rate of incisor eruption; during level 8 of enamel formation, the cross-sectional area of pulp chamber is smaller than that in wild-type controls, giving odontoblasts more time to add dentin

abnormal oral cavity morphology ( J:257948 )

• at 7 weeks of age, coat hair is found in the labial gingival sulci of the mandibular incisors as well as in the gingival sulci of some molars; the inserted coat hair is easily removed, indicating deep pockets around the incisors and molars

periodontal pocket ( J:257948 )

• at 7 weeks of age, potential deep periodontal pockets are observed around incisors and molars with inserted coat hairs

• however, only mild alveolar bone destruction is seen around these teeth

skeleton

delayed tooth eruption ( J:257948 )

• at 7 weeks of age, mice show a slightly reduced rate of incisor eruption; during level 8 of enamel formation, the cross-sectional area of pulp chamber is smaller than that in wild-type controls, giving odontoblasts more time to add dentin