Table 5.

Animal Models of MPS VII^*

Animal	Description	Base changea	Amino acid change	Phenotype	Reference
Murine	gusmps/gusmps	c.1470delC	mP490RfsX8	Severe	Birkenmeier et al. [1989]; Sands and Birkenmeier [1993]
Murine	gusmps2J/gusmps2J	Intron 8 ins5.4-kb	NDb	Attenuated	Gwynn B et al. [1998]; Vogler et al. [2001]
Murine	MPSVII/E540ATg	c.1470delC + ins hGUSBcDNA with c.1618A>C	p.E540A · mP490RfsX8	Severe	Sly et al. [2001]
Murine	Gustm(hE540A · mE536A)Sly	c.1606A>C + intron 9 ins hGUSBcDNA with c.1618A>C	p.E540A · mE536A	Severe	Tomatsu et al. [2003b]
Murine	Gustm(E536A)Sly	c.1606A>C	mE536A	Severe	Tomatsu et al. [2002b]
Murine	Gustm(E536Q)Sly	c.1607G>C	mE536Q	Attenuated	Tomatsu et al. [2002b]
Murine	Gustm(L175F)Sly	c.523C>T	mL175F	Attenuated	Tomatsu et al. [2002b]
Feline	NA	c.1074G>A	fE351K	Severe	Gitzelmann et al. [1994]; Fyfe et al. [1999]
Canine	NA	c.559G>A	cR166H	Severe	Haskins et al. [1984]; Haskins et al. [1991]; Ray et al. [1998]
Canine	NA	c.559G>A	cR166H	Severe	Silverstein et al. [2004]

^*The numbers for the nucleotide changes are reported in accordance with GenBank entry human: NM_010368.1, NP_034498.1; murine: NM_010368.1, NP_034498.1; feline: NM_001003910.1, NP_001003910.1; canine: NM_001003191.1, NP_001003191.1.

^aThe DNA mutation numbering is based on cDNA sequence. Nucleotides are numbered from the ATG initiation codon as suggested by den Dunnen and Antonarakis et al. [2001] and per HGVS guidelines (www.hgvs.org).

NA, not available.