Phenotypes Associated with This Genotype

Genotype
MGI:3587431

• Allelic Composition: Bmp5^se/Bmp5^se
• Genetic Background: Not Specified

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

hearing/vestibular/ear

abnormal ear shape ( J:14849 )

• pinna is less regularly curved and exhibits a flattening near the tip of the ear and in the outer margin

small ears ( J:14849 )

• pinna is about one half as long as wild-type and 1-2 mm less broad than in wild-type

short ears ( J:24474 )

thick ears ( J:14849 )

• pinna is usually thick and fleshy

homeostasis/metabolism

abnormal bone healing ( J:24474 )

• decreased repair of fractures

craniofacial

abnormal cranium morphology ( J:24474 )

• short skull

increased cranium width ( J:24474 )

abnormal ear shape ( J:14849 )

• pinna is less regularly curved and exhibits a flattening near the tip of the ear and in the outer margin

small ears ( J:14849 )

• pinna is about one half as long as wild-type and 1-2 mm less broad than in wild-type

short ears ( J:24474 )

thick ears ( J:14849 )

• pinna is usually thick and fleshy

limbs/digits/tail

abnormal limb bone morphology ( J:24474 )

• aplasia or hypoplasia of ulnar sesamoid bone in wrist

abnormal fibula morphology ( J:24474 )

• aplasia or hypoplasia of the peroneal process of the fibula

abnormal sesamoid bone of gastrocnemius morphology ( J:24474 )

• reduction or elimination of medial, but not lateral, sesamoid bone near knee

growth/size/body

abnormal ear shape ( J:14849 )

• pinna is less regularly curved and exhibits a flattening near the tip of the ear and in the outer margin

small ears ( J:14849 )

• pinna is about one half as long as wild-type and 1-2 mm less broad than in wild-type

short ears ( J:24474 )

thick ears ( J:14849 )

• pinna is usually thick and fleshy

decreased body size ( J:24474 )

skeleton

abnormal cranium morphology ( J:24474 )

• short skull

increased cranium width ( J:24474 )

abnormal bone healing ( J:24474 )

• decreased repair of fractures

abnormal limb bone morphology ( J:24474 )

• aplasia or hypoplasia of ulnar sesamoid bone in wrist

abnormal sesamoid bone of gastrocnemius morphology ( J:24474 )

• reduction or elimination of medial, but not lateral, sesamoid bone near knee

abnormal long bone morphology ( J:24474 )

• altered curves of long bones

abnormal fibula morphology ( J:24474 )

• aplasia or hypoplasia of the peroneal process of the fibula

decreased diameter of long bones ( J:24474 )

• smaller widths of long bones

absent xiphoid process ( J:24474 )

• xiphisternum is either absent or split

split xiphoid process ( J:24474 )

• xiphisternum is either absent or split

abnormal rib morphology ( J:24474 )

• rib defects

decreased rib number ( J:24474 )

abnormal sacrum morphology ( J:24474 )

• sacrum defect

abnormal vertebrae morphology ( J:24474 )

• vertebrae abnormalities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Meier-Gorlin syndrome		DOID:0060306	OMIM:PS224690	J:24474