Phenotypes associated with this allele

• Allele Symbol: Cyp51^tm1.1Bfro
• Allele Name: targeted mutation 1.1, Simon Horvat
• Allele ID: MGI:4836362
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cyp51^tm1.1Bfro/Cyp51^tm1.1Bfro	involves: 129P2/OlaHsd * C57BL/6	MGI:5014092

Genotype
MGI:5014092

hm1

• Allelic Composition: Cyp51^tm1.1Bfro/Cyp51^tm1.1Bfro
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Morphological developmental abnormalities in Cyp51^tm1.1Bfro/Cyp51^tm1.1Bfro embryos

mortality/aging

prenatal lethality, complete penetrance ( J:173366 )

• no viable offspring

• homozygotes in an advanced state of resorption at E15.5

limbs/digits/tail

abnormal limb morphology ( J:173366 )

abnormal digit morphology ( J:173366 )

camptodactyly ( J:173366 )

• forelimb

• second and third digits

polydactyly ( J:173366 )

• in the hind limbs resulting from bifurcation of proximal phalanges

syndactyly ( J:173366 )

• involving second and third digits of the forelimb

• involving the second and third metatarsals on the left

• involving the second, third, and fourth metatarsals on the right

abnormal limb bone morphology ( J:173366 )

• changes more pronounced in hindlimbs

abnormal carpal bone morphology ( J:173366 )

• underdeveloped carpal elements

abnormal phalanx morphology ( J:173366 )

• distal phalanges are absent

polyphalangy ( J:173366 )

• proximal phalange bifurcation in the hind limb

abnormal tarsal bone morphology ( J:173366 )

• underdeveloped tarsal elements

bowed radius ( J:173366 )

bowed tibia ( J:173366 )

micromelia ( J:173366 )

• shortened fore and hind limbs at E14.5

abnormal tail morphology ( J:173366 )

short tail ( J:173366 )

• at E10.5

kinked tail ( J:173366 )

• at E10.5

skeleton

micrognathia ( J:173366 )

absent palatine bone horizontal plate ( J:173366 )

• absence of palatal shelf cartilage leads to cleft palate

abnormal limb bone morphology ( J:173366 )

• changes more pronounced in hindlimbs

abnormal carpal bone morphology ( J:173366 )

• underdeveloped carpal elements

abnormal phalanx morphology ( J:173366 )

• distal phalanges are absent

polyphalangy ( J:173366 )

• proximal phalange bifurcation in the hind limb

abnormal tarsal bone morphology ( J:173366 )

• underdeveloped tarsal elements

bowed radius ( J:173366 )

bowed tibia ( J:173366 )

synostosis ( J:173366 )

• of femur and tibia

craniofacial

micrognathia ( J:173366 )

absent palatine bone horizontal plate ( J:173366 )

• absence of palatal shelf cartilage leads to cleft palate

cleft palate ( J:173366 )

• absence of palatal shelf cartilage leads to cleft palate

absent tongue ( J:173366 )

• shortened or absent

short tongue ( J:173366 )

• shortened or absent

shortened head ( J:173366 )

• brachycephaly

cardiovascular system

abnormal heart morphology ( J:173366 )

• epicardial and myocardial defects

• cell proliferation defects at E12.5 and E14.5

• normal level of apoptosis

dilated heart atrium ( J:173366 )

ventricular septal defect ( J:173366 )

heart hypoplasia ( J:173366 )

ventricular hypoplasia ( J:173366 )

• at E12.5, E13.5, E14.5

pericardial effusion ( J:173366 )

• pericardial bleeding seen at E14.5

abnormal cardiovascular system physiology ( J:173366 )

hematoma ( J:173366 )

• in dorso-lateral and pericardial regions by E14.5

immune system

abnormal lymphatic vessel morphology ( J:173366 )

• nuchal translucency

• highly expanded jugular lymph sac

abnormal lymphatic vessel smooth muscle morphology ( J:173366 )

• increased smooth muscle cells surrounding the jugular lymph sac

digestive/alimentary system

absent palatine bone horizontal plate ( J:173366 )

• absence of palatal shelf cartilage leads to cleft palate

cleft palate ( J:173366 )

• absence of palatal shelf cartilage leads to cleft palate

absent tongue ( J:173366 )

• shortened or absent

short tongue ( J:173366 )

• shortened or absent

homeostasis/metabolism

pericardial effusion ( J:173366 )

• pericardial bleeding seen at E14.5

muscle

abnormal lymphatic vessel smooth muscle morphology ( J:173366 )

• increased smooth muscle cells surrounding the jugular lymph sac

growth/size/body

absent palatine bone horizontal plate ( J:173366 )

• absence of palatal shelf cartilage leads to cleft palate

cleft palate ( J:173366 )

• absence of palatal shelf cartilage leads to cleft palate

absent tongue ( J:173366 )

• shortened or absent

short tongue ( J:173366 )

• shortened or absent

shortened head ( J:173366 )

• brachycephaly