Phenotypes Associated with This Genotype

Genotype
MGI:8351552

• Allelic Composition: Med13l^{tm1d(KOMP)Wtsi}/Med13l⁺
• Genetic Background: involves: C57BL/6N

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

craniofacial

abnormal squamoparietal suture morphology ( J:376345 )

• a subset of mice display unilateral discontinuations in the squamosal suture, irrespective of laterality and the presence of the crooked snout

malocclusion ( J:376345 )

• malocclusion occurs in mice with a crooked snout

• however, mandible defects are not seen

abnormal midface morphology ( J:376345 )

• approximately 61% of mice display anomalies of the midfacial elements which are not visible until approximately weaning age

abnormal snout morphology ( J:376345 )

• approximately 22% of mice exhibit a pug snout with midface hypoplasia

• approximately 39% of mice exhibit a crooked snout that results in malocclusion

growth/size/body

malocclusion ( J:376345 )

• malocclusion occurs in mice with a crooked snout

• however, mandible defects are not seen

abnormal midface morphology ( J:376345 )

• approximately 61% of mice display anomalies of the midfacial elements which are not visible until approximately weaning age

abnormal snout morphology ( J:376345 )

• approximately 22% of mice exhibit a pug snout with midface hypoplasia

• approximately 39% of mice exhibit a crooked snout that results in malocclusion

decreased body size ( J:376345 )

• mice show physical developmental delay such that mice are smaller at P7 but follow the same growth curve and rate of growth as wild-type mice over the next 7 weeks and never make up for the initial size difference at P7

skeleton

abnormal squamoparietal suture morphology ( J:376345 )

• a subset of mice display unilateral discontinuations in the squamosal suture, irrespective of laterality and the presence of the crooked snout

malocclusion ( J:376345 )

• malocclusion occurs in mice with a crooked snout

• however, mandible defects are not seen

cardiovascular system

cardiovascular system phenotype ( J:376345 )

N • 4-month-old mice do not exhibit any differences in heart rate, ejection fraction, end-diastolic volume, or end-systolic volume and no differences at 12 months are seen on echocardiograms

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
impaired intellectual development and distinctive facial features with or without cardiac defects		DOID:0070776	OMIM:616789	J:376345