Phenotypes associated with this allele

• Allele Symbol: Fam20c^tm1Lex
• Allele Name: targeted mutation 1, Lexicon Genetics
• Allele ID: MGI:5432377
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fam20c^tm1Lex/Fam20c^tm1Lex	involves: 129S5/SvEvBrd * C57BL/6	MGI:5432491

Genotype
MGI:5432491

hm1

• Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:186384 )

• 20% mortality of homozygotes at 2 weeks of age

growth/size/body

abnormal tooth morphology ( J:186384 )

abnormal dental pulp cavity morphology ( J:186384 )

• enlarged pulp chambers

• pulp necrosis in molars and apical abscesses

dental pulp necrosis ( J:186384 )

• pulp necrosis in molars

conical molar ( J:186384 )

• peg-like with defective enamel

small molars ( J:186384 )

abnormal tooth hard tissue morphology ( J:186384 )

abnormal dentin morphology ( J:186384 )

• initially scattered basophilic vacuoles in a dentin matrix

• later loss of dentin tubules and irregular distribution

• thinning of dentin layer

abnormal dentin development ( J:186384 )

• defects in primary and secondary dentin

absent enamel ( J:186384 )

• near total lack of enamel on teeth

abnormal tooth root morphology ( J:186384 )

• narrow irregular roots

apical tooth abscess ( J:186384 )

abnormal postnatal growth/weight/body size ( J:186384 )

• decreased body mass measurements

decreased body weight ( J:186384 )

decreased body length ( J:186384 )

postnatal growth retardation ( J:186384 )

• stunted growth

distended abdomen ( J:186384 )

• bloated abdomen

behavior/neurological

abnormal cued conditioning behavior ( J:186384 )

• increased pre-shock, trace, and post-shock freezing during training in context-trace conditioning

abnormal motor capabilities/coordination/movement ( J:186384 )

impaired balance ( J:186384 )

decreased locomotor activity ( J:186384 )

• reduced mean ambulatory counts in both light and dark phase

• decreased median sum total distance travelled in open field tests

skeleton

abnormal skeleton morphology ( J:186384 )

abnormal jaw morphology ( J:186384 )

abnormal tooth morphology ( J:186384 )

abnormal dental pulp cavity morphology ( J:186384 )

• enlarged pulp chambers

• pulp necrosis in molars and apical abscesses

dental pulp necrosis ( J:186384 )

• pulp necrosis in molars

conical molar ( J:186384 )

• peg-like with defective enamel

small molars ( J:186384 )

abnormal tooth hard tissue morphology ( J:186384 )

abnormal dentin morphology ( J:186384 )

• initially scattered basophilic vacuoles in a dentin matrix

• later loss of dentin tubules and irregular distribution

• thinning of dentin layer

abnormal dentin development ( J:186384 )

• defects in primary and secondary dentin

absent enamel ( J:186384 )

• near total lack of enamel on teeth

abnormal tooth root morphology ( J:186384 )

• narrow irregular roots

apical tooth abscess ( J:186384 )

mandibular hyperostosis ( J:186384 )

• thickened mandible

abnormal maxilla morphology ( J:186384 )

• thickened

abnormal femur morphology ( J:186384 )

• decreased mean femoral mid shaft cortical thickness

abnormal vertebrae morphology ( J:186384 )

• decreased vertebral trabecular bone volume

abnormal bone structure ( J:186384 )

decreased bone mineral content ( J:186384 )

decreased bone mineral density ( J:186384 )

decreased compact bone thickness ( J:186384 )

• decreased mean femoral mid shaft cortical thickness

abnormal trabecular bone morphology ( J:186384 )

• marked reduction of cartilage in newly formed trabeculae

decreased trabecular bone volume ( J:186384 )

• in vertebrae

absent bone trabeculae ( J:186384 )

• trabeculae nearly absent in long bones of young mice but increased in older mice

decreased trabecular bone thickness ( J:186384 )

• narrow spongiosa with thick irregular osteoid bands

osteosclerosis ( J:186384 )

• metaphyseal osteosclerosis

abnormal epiphyseal plate morphology ( J:186384 )

• thickened and disorganized growth plate cartilage

fragile skeleton ( J:186384 )

• fragile bones

craniofacial

abnormal jaw morphology ( J:186384 )

abnormal tooth morphology ( J:186384 )

abnormal dental pulp cavity morphology ( J:186384 )

• enlarged pulp chambers

• pulp necrosis in molars and apical abscesses

dental pulp necrosis ( J:186384 )

• pulp necrosis in molars

conical molar ( J:186384 )

• peg-like with defective enamel

small molars ( J:186384 )

abnormal tooth hard tissue morphology ( J:186384 )

abnormal dentin morphology ( J:186384 )

• initially scattered basophilic vacuoles in a dentin matrix

• later loss of dentin tubules and irregular distribution

• thinning of dentin layer

abnormal dentin development ( J:186384 )

• defects in primary and secondary dentin

absent enamel ( J:186384 )

• near total lack of enamel on teeth

abnormal tooth root morphology ( J:186384 )

• narrow irregular roots

apical tooth abscess ( J:186384 )

mandibular hyperostosis ( J:186384 )

• thickened mandible

abnormal maxilla morphology ( J:186384 )

• thickened

hearing/vestibular/ear

impaired hearing ( J:186384 )

• lack of startle response in prepulse inhibition test

nervous system

abnormal prepulse inhibition ( J:186384 )

• lack of startle response in prepulse inhibition test

vision/eye

abnormal lacrimal gland physiology ( J:186384 )

• increased lacrimal discharge and crusting around the eyes

homeostasis/metabolism

decreased circulating calcium level ( J:186384 )

• modest

decreased circulating phosphate level ( J:186384 )

• severe

increased circulating alkaline phosphatase level ( J:186384 )

• 2.1 fold increase

hematopoietic system

extramedullary hematopoiesis ( J:186384 )

• in spleen and liver

renal/urinary system

abnormal glomerular capsule parietal layer morphology ( J:186384 )

• lack of secondary hormone dependent differentiation of parietal epithelium cells in Bowman's capsule in males

reproductive system

decreased Leydig cell number ( J:186384 )

♂

digestive/alimentary system

abnormal salivary gland morphology ( J:186384 )

• lack of secondary hormone dependent differentiation of tubular epithelium in salivary glands of mature males

endocrine/exocrine glands

abnormal salivary gland morphology ( J:186384 )

• lack of secondary hormone dependent differentiation of tubular epithelium in salivary glands of mature males

decreased Leydig cell number ( J:186384 )

♂

abnormal lacrimal gland physiology ( J:186384 )

• increased lacrimal discharge and crusting around the eyes

limbs/digits/tail

abnormal femur morphology ( J:186384 )

• decreased mean femoral mid shaft cortical thickness