Phenotypes associated with this allele

• Allele Symbol: Pthlh^tm1.1Ack
• Allele Name: targeted mutation 1.1, Andrew C Karaplis
• Allele ID: MGI:3617812
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Pthlh^tm1Ack/Pthlh^tm1.1Ack Tmem163^Tg(ACTB-cre)2Mrt/0	involves: 129S1/Sv * 129X1/SvJ * BALB/c * FVB/N	MGI:3617821

Genotype
MGI:3617821

cn1

• Allelic Composition: Pthlh^tm1Ack/Pthlh^tm1.1Ack; Tmem163^{Tg(ACTB-cre)2Mrt}/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * FVB/N

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

mortality/aging

neonatal lethality, complete penetrance ( J:69396 )

• phenotype is stated to be identical to that of conditional mutants with a Pthlh^tm1Hmk allele in place of the Pthlh^tm1.1Ack allele; however no data is presented in J:69396

skeleton

short mandible ( J:69396 )

domed cranium ( J:69396 )

abnormal long bone epiphyseal plate morphology ( J:69396 )

abnormal long bone epiphyseal plate proliferative zone ( J:69396 )

premature endochondral bone ossification ( J:69396 )

respiratory system

respiratory failure ( J:69396 )

growth/size/body

short mandible ( J:69396 )

protruding tongue ( J:69396 )

• shortening of the mandible results in protrusion of the tongue

small thoracic cavity ( J:69396 )

• narrow thorax

distended abdomen ( J:69396 )

craniofacial

short mandible ( J:69396 )

domed cranium ( J:69396 )

protruding tongue ( J:69396 )

• shortening of the mandible results in protrusion of the tongue

digestive/alimentary system

protruding tongue ( J:69396 )

• shortening of the mandible results in protrusion of the tongue