Phenotypes associated with this allele

• Allele Symbol: Ptch1^mes
• Allele Name: mesenchymal dysplasia
• Allele ID: MGI:1856954
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptch1^mes/Ptch1^mes	B6C3Fe a/a-Ptch1^mes	MGI:3840076
hm2	Ptch1^mes/Ptch1^mes	involves: CBA/J	MGI:4455053

Genotype
MGI:3840076

hm1

• Allelic Composition: Ptch1^mes/Ptch1^mes
• Genetic Background: B6C3Fe a/a-Ptch1^mes

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

craniofacial

shortened head ( J:23861 )

endocrine/exocrine glands

small male preputial gland ( J:32739 )

♂

small seminal vesicle ( J:32739 )

♂

cryptorchism ( J:23861 )

♂

limbs/digits/tail

polydactyly ( J:23861 )

• this is a preaxial condition

abnormal foot pad morphology ( J:32739 )

• the foot pads are extremely thick and tough

short tail ( J:23861 )

kinked tail ( J:23861 )

thick tail ( J:32739 )

muscle

abnormal tendon morphology ( J:23861 )

• alizarin preparations reveal mineralizartion of tendons

pigmentation

belly spot ( J:23861 )

reproductive system

small male preputial gland ( J:32739 )

♂

small seminal vesicle ( J:32739 )

♂

cryptorchism ( J:23861 )

♂

abnormal spermatogenesis ( J:32739 )

♂ • the result of cryptorchid testes

female infertility ( J:23861 )

♀ • ovaries function normally when transplanted into histocompatible hosts

male infertility ( J:23861 )

♂

skeleton

abnormal skeleton morphology ( J:23861 )

• there are multiple skeletal defects

abnormal tendon morphology ( J:23861 )

• alizarin preparations reveal mineralizartion of tendons

kyphosis ( J:32739 )

• the more severely mice display kyphosis in the shoulder region

vision/eye

ocular hypertelorism ( J:23861 )

behavior/neurological

decreased fear-related response ( J:32739 )

• mice are very docile

growth/size/body

shortened head ( J:23861 )

abnormal thoracic cavity morphology ( J:32739 )

• the thorax seems smaller but it is wider in proportion to length

renal/urinary system

small male preputial gland ( J:32739 )

♂

integument

small male preputial gland ( J:32739 )

♂

belly spot ( J:23861 )

dermal hyperplasia ( J:23861 , J:32739 )

• excessive skin is in folds (J:23861)

• folds of skin obscure the eyes and cover leg joints (J:32739)

Genotype
MGI:4455053

hm2

• Allelic Composition: Ptch1^mes/Ptch1^mes
• Genetic Background: involves: CBA/J

craniofacial

abnormal upper incisor morphology ( J:156471 )

• maxillary incisors have grooves on their labial surfaces

abnormal enamel morphology ( J:156471 )

• grooves on incisors result from a localized reduction of enamel on the labial surface

skeleton

abnormal upper incisor morphology ( J:156471 )

• maxillary incisors have grooves on their labial surfaces

abnormal enamel morphology ( J:156471 )

• grooves on incisors result from a localized reduction of enamel on the labial surface

growth/size/body

abnormal upper incisor morphology ( J:156471 )

• maxillary incisors have grooves on their labial surfaces

abnormal enamel morphology ( J:156471 )

• grooves on incisors result from a localized reduction of enamel on the labial surface